1,647 Matching Annotations
  1. Oct 2026
  2. www.molbiolcell.org www.molbiolcell.org
    Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3 | Molecular Biology of the Cell
    1
    1. ClingenBaseline 25 Oct 2026
      Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3

      PMID: 12134079

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    molbiolcell.org/doi/10.1091/mbc.e02-01-0031
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy
    1
    1. ClingenBaseline 25 Oct 2026
      In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy

      PMID: 32666594

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      ClinGen General Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/32666594/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations
    1
    1. ClingenBaseline 25 Oct 2026
      Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations

      PMID: 14962443

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/14962443/
  5. www.sciencedirect.com www.sciencedirect.com
    Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells
    1
    1. ClingenBaseline 25 Oct 2026
      Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells

      PMID: 31606330

      Gene: GPR143

      HGNC: 20145

      Disease: X-linked recessive ocular albinism

      MONDO: 0021019

      InheritancePattern: X-linked recessive

      Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)

      Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.

      General ClinGen Gene:GPR143 HGNC:20145 inferred_gene_hgnc:20145 inferred_gene_source:hgnc_tag Retina GCEP
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    sciencedirect.com/science/article/pii/S1347861319357044
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP
    1
    1. ClingenBaseline 25 Oct 2026
      Retinal Phenotype in the rd9 Mutant Mouse, a Model of X-Linked RP

      PMID: 31607844

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6761883/
  7. academic.oup.com academic.oup.com
    Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
    1
    1. ClingenBaseline 25 Oct 2026
      Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

      PMID: 11978759

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    academic.oup.com/hmg/article/11/9/993/2901641
  8. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Safety of a pasteurized plasma‐derived Factor VIII and von Willebrand factor concentrate: analysis of 33 years of pharmacovigilance data
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/trf.14241
  9. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden
    1
    1. ClingenBaseline 25 Oct 2026
      Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden

      PMID: 1419803

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/1419803/
  10. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The genetic basis of von Willebrand disease
    1
    1. ClingenBaseline 25 Oct 2026

      PMID: 20409624

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2M

      MONDO: 0015630

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/20409624/
  11. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Plasma levels of plasminogen activator inhibitor‐1 and bleeding phenotype in patients with von Willebrand disease
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13206
  12. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Efficacy and safety of a VWF/FVIII concentrate (wilate ® ) in inherited von Willebrand disease patients undergoing surgical procedures
    1
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    pubmed.ncbi.nlm.nih.gov/28026130/
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3314005/
  14. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Haemostatic patterns and bleeding scores of a genetically characterised Italian family with combined haemophilia A and type 1 von Willebrand disease
    1
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    pubmed.ncbi.nlm.nih.gov/27380589/
  15. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Potential misdiagnosis of von Willebrand disease and haemophilia caused by ineffective mixing of thawed plasma
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/hae.13305
  16. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    PT-VWD posing diagnostic and therapeutic challenges - small case series
    1
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    pubmed.ncbi.nlm.nih.gov/27819553/
  17. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Development of a novel flow cytometric immunobead array to quantify VWF: Ag and VWF: GPIbR and its application in acute myocardial infarction
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/ejh.12905
  18. www.jthjournal.org www.jthjournal.org
    Large deletions identified in patients with von Willebrand disease using multiple ligation‐dependent probe amplification
    1
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    jthjournal.org/article/S1538-7836(22)06927-6/fulltext
  19. web.b.ebscohost.com.libproxy.lib.unc.edu web.b.ebscohost.com.libproxy.lib.unc.edu
    PT-VWD posing diagnostic and therapeutic challenges – small case series: EBSCOhost
    1
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    web.b.ebscohost.com.libproxy.lib.unc.edu/ehost/detail/detail
  20. www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
    Occult cancer detection in patients with hemostatic disorder and venous thromboembolism
    1
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    www-sciencedirect-com.libproxy.lib.unc.edu/science/article/pii/S0049384817303547
  21. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5649964/
  22. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Higher and lower active circulating VWF levels: different facets of von Willebrand disease
    1
    1. ClingenBaseline 25 Oct 2026
      Higher and lower active circulating VWF levels: different facets of von Willebrand disease

      PMID: 26456374

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2B

      MONDO: 0015629

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    pubmed.ncbi.nlm.nih.gov/26456374/
  23. ashpublications.org ashpublications.org
    Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
    1
    1. ClingenBaseline 25 Oct 2026
      Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

      PMID: 16985174

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2A

      MONDO: 0015628

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    ashpublications.org/blood/article/109/1/112/117155/Phenotype-and-genotype-of-a-cohort-of-families
  24. ashpublications.org ashpublications.org
    A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE
    1
    1. ClingenBaseline 25 Oct 2026
      A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

      PMID: 20351307

      Gene: VWF

      HGNC: 12726

      Disease: von Willebrand disease type 2A

      MONDO: 0015628

      InheritancePattern: Autosomal Dominant

      Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).

      Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants

      General ClinGen Gene:VWF HGNC:12726 inferred_gene_hgnc:12726 inferred_gene_source:hgnc_tag ClinGen VWF
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    ashpublications.org/blood/article/115/23/4894/27789/A-cluster-of-mutations-in-the-D3-domain-of-von
  25. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Recombinant von Willebrand factor for severe gastrointestinal bleeding unresponsive to other treatments in a patient with type 2A von Willebrand disease: a case report
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5642339/
  26. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Increase of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5664402/
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5412645/
  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A case report in hypertrophic cardiomyopathy in a recreational athlete: multimodality risk assessment, genetic insights, and shared decision-making
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12810418/pdf/ytaf671.pdf
  29. www-ahajournals-org.libproxy.lib.unc.edu www-ahajournals-org.libproxy.lib.unc.edu
    Ebstein’s Anomaly | Circulation
    1
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    www-ahajournals-org.libproxy.lib.unc.edu/doi/10.1161/CIRCULATIONAHA.106.619338
  30. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7199944/
  31. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Effects of immunomodulation in classic infantile Pompe patients with high antibody titers
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6431009/
  32. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6399888/
  33. www.sciencedirect.com www.sciencedirect.com
    The nature of respiratory muscle weakness in patients with late-onset Pompe disease
    1
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    sciencedirect.com/science/article/pii/S0960896619300550
  34. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3866899/
  35. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and molecular insights into Glanzmann's thrombasthenia in China
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6041146/
  36. www.sciencedirect.com www.sciencedirect.com
    Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs
    1
    1. ClingenBaseline 25 Oct 2026
      Acquired Glanzmann thrombasthenia: From antibodies to anti-platelet drugs

      PMID: 31010659

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156, respectively as shown above

      InsufficientEvidence: This is a review article. There are no specific case reports; however, there are cited articles which may have GT probands states in them

      PreviouslyPublished: PMIDs: 3015287, 2935559, 8982055, 12437677

      ClinGen General HGNC:6156 HGNC:6138 ITGA2B ITGB3 InsufficientEvidence inferred_gene_hgnc:6156 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    sciencedirect.com/science/article/pii/S0268960X19300025
  37. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel form of integrin dysfunction involving β1, β2, and β3 integrins
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC151830/
  38. onlinelibrary.wiley.com onlinelibrary.wiley.com
    The role of platelets in venous thrombosis: a patient with Glanzmann's thrombasthenia and a factor V Leiden mutation suffering from deep venous thrombosis
    1
    1. ClingenBaseline 25 Oct 2026
      The role of platelets in venous thrombosis: a patient with Glanzmann's thrombasthenia and a factor V Leiden mutation suffering from deep venous thrombosis

      PMID: 12871523

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2003.00041.x
  39. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Colonoscopy polypectomy management in Glanzmann’s thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC2998848/
  40. journals.sagepub.com journals.sagepub.com
    Two Genetic Defects in αIIb Are Associated with Type I Glanzmann's Thrombasthenia in a Great Pyrenees Dog: A 14-base Insertion in Exon 13 and a Splicing Defect of Intron 13 - D. L. Lipscomb, C. Bourne, M. K. Boudreaux, 2000
    1
    1. ClingenBaseline 25 Oct 2026
      Two Genetic Defects in αIIb Are Associated with Type I Glanzmann's Thrombasthenia in a Great Pyrenees Dog: A 14-base Insertion in Exon 13 and a Splicing Defect of Intron 13

      PMID: 11105947

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article mentions two genetic defects in the ITGA2B gene; however, in dogs not GT human patients; therefore, we have insufficient evidence

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    journals.sagepub.com/doi/full/10.1354/vp.37-6-581
  41. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Functional Comparison of Induced Pluripotent Stem Cell- and Blood-Derived GPIIbIIIa Deficient Platelets
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4301811/
  42. onlinelibrary.wiley.com onlinelibrary.wiley.com
    How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/bjh.15409
  43. watermark.silverchair.com watermark.silverchair.com
    2344.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Effect of Deletion of Glycoprotein IIb Exon 28 on the Expression of the Platelet Glycoprotein IIb/IIIa Complex

      PMID: 1932748

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a different variants in ITGA2B/ITGB3; however, no GT probands are mentioned in this article harboring these variants

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/2344.pdf
  44. Local file Local file
    CPLA_A_343654_P 35..40
    1

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  45. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    50-kD Integrin-Associated Protein Does Not Detectably Influence Several Functions of Glycoprotein IIb-IIIa Complex in Human Platelets
    1
    1. ClingenBaseline 25 Oct 2026
      50-kD Integrin-Associated Protein Does Not Detectably Influence Several Functions of Glycoprotein IIb-IIIa Complex in Human Platelets

      PMID: 7662966

      Gene: ITGB3

      HGNC: 6156

      InsufficientEvidence: This article mentions a variant in ITGB3 (p.Ser752Pro); however, there is no GT proband mentioned who harbors this variant; therefore, there is insufficient evidence.

      Note: This article mentions CHO and HEL cell expression studies; however, they are not testing the variant in these cell lines, so the experimental assay evidence does not apply in this situation

      ClinGen General ITGB3 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6156 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    pubmed.ncbi.nlm.nih.gov/7662966-50-kd-integrin-associated-protein-does-not-detectably-influence-several-functions-of-glycoprotein-iib-iiia-complex-in-human-platelets/
  46. Local file Local file
    jth_1160 489..496
    1

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  47. Local file Local file
    Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes alpha
    1

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  48. www.jbc.org www.jbc.org
    23554.full.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Involvement of Platelet Glycoprotein IIb-IIIa (aIIb-P3 Integrin) in Thrombin-induced Synthesis of Phosphatidylinositol 3’,4’- Bisphosphate

      PMID: 1660876

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    jbc.org/content/266/35/23554.full.pdf
  49. Local file Local file
    A Val193Met mutation in GPIIIa results in a GPIIb/IIIa receptor with a constitutively high affinity for a small ligand
    1

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  50. www.ahajournals.org www.ahajournals.org
    atvb_atvb-2019-313191_supp1.pdf
    2
    1. ClingenBaseline 25 Oct 2026
      GT19

      Case#: 29 year old, female

      Disease: Glazmann's Thrombasthenia

      CasePresentingHPOs: HP:0000967, HP:0000978, HP:0000225, HP:0004406, HP:0006298, HP:0001892

      PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.

      GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing

      Allele1:

      CAID: CA399802403

      ClinVar: 1330318

      Variant: NM_000419.5:c.1622T>A

      Allele 2:

      ClinVar: 2892

      CAID: CA115834

      Variant: NM_000419.5:c.1750C>T

      GnomAD: East Asian Population 0.0002176 (4/18386)

      ExpressionEvidence: Flow Cytometry of platelet integrin: .77% B3 expression, .37% A2B expression

      CAID:CA399802403 Individual CaseInfo Zygosity:Compoundheterozygous General inferred_gene_hgnc:6138 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
    2. ClingenBaseline 25 Oct 2026
      GT6

      Case#: 13, male

      Disease: Glazmann's Thrombasthenia

      CasePresentingHPOs: HP:0000967, HP:0000978, HP:0004406, HP:0000225, HP:0006298, HP:0001892

      PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.

      GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing

      Allele 1:

      ClinVar: 1330339

      CAID: CA400024922

      Variant: NM_000212.3:c.856G>A

      GnomAD: Not Found

      Allele 2

      ClinVar: 1330314

      CAID: CA400028591

      Variant: NM_000212.3:c.1288C>T

      GnomAD: Highest in European non-Finnish population 0.000008801 (1/113622)

      ExpressionEvidence: Flow Cytometry of platelet integrin: 8.3% B3 expression, 88.8% A2B expression

      Individual Zygosity:Compoundheterozygote CAID:CA400028591 CaID:CA400024922 General Gene:ITGB3 inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3
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    ahajournals.org/action/downloadSupplement
  51. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Multidisciplinary Clinical Management of a Localized Aggressive Periodontitis diagnosed in a Child with Glanzmann’s Thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      Multidisciplinary Clinical Management of a Localized Aggressive Periodontitis diagnosed in a Child with Glanzmann’s Thrombasthenia

      PMID: 30397380

      Gene: ITGA2B and/or ITGB3 (Proband presented with GT; therefore, these genes may involved

      HGNC: 6138 and 6156

      InsufficientEvidence: Proband with Glanzmann thrombasthenia described in this article; however, no variant is mentioned in this article

      General ClinGen ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6212666/
  52. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Cytoplasmic regions of the β3 subunit of integrin αIIbβ3 involved in platelet adhesion on fibrinogen under flow conditions
    1
    1. ClingenBaseline 25 Oct 2026
      Cytoplasmic regions of the β3 subunit of integrin αIIbβ3 involved in platelet adhesion on fibrinogen under flow conditions

      PMID: 12941045

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This article does not have any GT case reports; however, this article references another article-- "In an earlier report, Chen et al. [14] described a patient with a variant of Glanzmann's thrombasthenia whose platelets failed to aggregate due to a S752→P mutation"

      PreviouslyPublished: PMID: 1438206 and PMID: 8080992

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    onlinelibrary.wiley.com/doi/full/10.1046/j.1538-7836.2003.00381.x
  53. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review
    1
    1. ClingenBaseline 25 Oct 2026
      Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

      PMID: 25275492

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article is a review, please check tables for previously published probands

      PreviouslyPublished: Table 9 has previously published GT patients

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4183524/
  54. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. - PubMed - NCBI
    1
    1. ClingenBaseline 25 Oct 2026
      Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.

      PMID: 21917754

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article is a review on GT. There are previously published variants and probands with GT mentioned, but no novel case reports presented here

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pubmed/21917754
  55. asbmr.onlinelibrary.wiley.com asbmr.onlinelibrary.wiley.com
    Critical Role of β3 Integrin in Experimental Postmenopausal Osteoporosis
    1
    1. ClingenBaseline 25 Oct 2026
      Critical Role of β3 Integrin in Experimental Postmenopausal Osteoporosis† Haibo Zhao Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Hideki Kitaura Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Mark S Sands Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author F Patrick Ross Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Steven L Teitelbaum Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USASearch for more papers by this author Deborah Veis Novack MD, PhD Corresponding Author E-mail address: novack@wustl.edu Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USA Department of Medicine, Washington University School of Medicine, St Louis, Missouri, USAWashington University School of Medicine, 660 S. Euclid Avenue, Box 8301, St Louis, MO 63110, USASearch for more papers by this author

      PMID: 16294265

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: This is a study of ITGAB variants on mice, not humans, therefore we have insufficient evidence; however, this article may be useful for experimental evidence

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    asbmr.onlinelibrary.wiley.com/doi/full/10.1359/JBMR.050724
  56. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2675678/
  57. link.springer.com link.springer.com
    Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation
    1
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    URL

    link.springer.com/content/pdf/10.1532/IJH97.04044.pdf
  58. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Glanzmann Thrombasthenia in Two Iraqi-Jewish Siblings Is Caused by a Novel Splice Junction Mutation in the Glycoprotein IIb
    1
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    pubmed.ncbi.nlm.nih.gov/9663713-glanzmann-thrombasthenia-in-two-iraqi-jewish-siblings-is-caused-by-a-novel-splice-junction-mutation-in-the-glycoprotein-iib/
  59. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Glanzmann thrombasthenia in a 17‐year‐old Peruvian Paso mare
    1
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1939-165X.2011.00289.x
  60. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Antiplatelet antibodies in cases of Glanzmann's thrombasthenia with and without a history of multiple platelet transfusion
    1
    1. ClingenBaseline 25 Oct 2026
      Antiplatelet antibodies in cases of Glanzmann's thrombasthenia with and without a history of multiple platelet transfusion

      PMID: 20407646

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article studies the antiplatelet antibodies in 23 patients with GT who may have missense mutations; however, specific variants/mutations in ITGA2B and ITGB3 are not mentioned; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2846565/
  61. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jclinpath00213-0066.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Glanzmann'sthrombastheniawithmildvonWillebrand'sdisease

      PMID: 8282841

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC501729/pdf/jclinpath00213-0066.pdf
  62. www.tandfonline.com www.tandfonline.com
    Glanzmann's thrombasthenia: updated
    1
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    tandfonline.com/doi/pdf/10.1080/0953710021000024394
  63. Local file Local file
    Excessive Gingival Bleeding in Two Patients With Glanzmann Thrombasthenia Excessive Gingival Bleeding in Two Patients With Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      Excessive Gingival Bleeding in Two Patients WithGlanzmann Thrombasthenia

      PMID: 17539731

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions two GT case reports of individuals with excessive gingival bleeding; however, there was no mention of variants in ITGA2B and/or ITBG3 in these two probands discussed in the article therefore we have insufficient evidene

      ClinGen General HGNC:6138 HGNC:6156 ITGA2B ITGB3 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  64. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      Glanzmann Thrombasthenia

      PMID: 30855858

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156 respectively as shown above.

      InsufficientEvidence: This is a summary and review of Glanzmann thrombasthenia. This article cites other articles which may mention GT patients/case reports.

      PreviouslyPublished: PMID: 26185478

      ClinGen General HGNC:6156 HGNC:6138 ITGA2B ITGB3 InsufficientEvidence PreviouslyPublished inferred_gene_hgnc:6156 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/books/NBK538270/
  65. Local file Local file
    Thomson
    1

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  66. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Eptifibatide-induced thrombocytopenia and thrombosis in humans require FcγRIIa and the integrin β3 cytoplasmic domain
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC2648674/
  67. Local file Local file
    Acquired thrombasthenia due to GPIIbIIIa platelet autoantibodies in a 4-yr-old child
    1
    1. ClingenBaseline 25 Oct 2026
      Acquired thrombasthenia due to GPIIbIIIaplatelet autoantibodies in a 4-yr-old child

      PMID: 16343278

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a 4 year old with acquired thrombasthenia; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  68. ashpublications.org ashpublications.org
    Recombinant Factor VIIa Is Effective for Bleeding and Surgery in Patients With Glanzmann Thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      Recombinant Factor VIIa Is Effective for Bleeding and Surgery in Patients With Glanzmann Thrombasthenia

      PMID: 10572113

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ashpublications.org/blood/article/94/11/3951/260442/Recombinant-Factor-VIIa-Is-Effective-for-Bleeding
  69. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder
    1
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1365-2141.2004.05173.x
  70. journals.sagepub.com journals.sagepub.com
    Intensive Menstrual Bleeding Successfully Treated With Recombinant Factor VIIa in Glanzmann Thrombasthenia
    1
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    URL

    journals.sagepub.com/doi/pdf/10.1177/1076029610364518
  71. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    jcinvest00025-0137.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC295643/pdf/jcinvest00025-0137.pdf
  72. watermark.silverchair.com watermark.silverchair.com
    1562.pdf
    1
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    watermark.silverchair.com/1562.pdf
  73. Local file Local file
    jth_990 68..73
    1

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  74. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    β3-integrin–deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
    1
    1. ClingenBaseline 25 Oct 2026
      β3-integrin–deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival

      PMID: 9916135

      Gene: ITGA2B and/or ITGB3

      NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITBG3; therefore there is no evidence. Researchers in this study generated a strain of B3 null mice, these mice will allow analysis of other suggested functions of B3 integrins.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC407888/
  75. ashpublications.org ashpublications.org
    Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor–independent fibrin generation
    1
    1. ClingenBaseline 25 Oct 2026
      Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor–independent fibrin generation

      PMID: 14592825

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence

      In this particular study, the effect of rFVIIa on the aggregation of αIIbβ3-deficient platelets was investigated in a system consisting of isolated platelets and purified coagulation factors.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    ashpublications.org/blood/article/103/5/1720/18188/Recombinant-factor-VIIa-restores-aggregation-of
  76. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Involvement of GPIIb-IIIa on Human Platelets in Phosphotyrosine-Specific Dephosphorylation
    1
    1. ClingenBaseline 25 Oct 2026
      Involvement of GPIIb-IIIa on Human Platelets in Phosphotyrosine-Specific Dephosphorylation

      PMID: 7687438

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and ITGB3. Rather, This article reports another aspect of relationship between GPIIIb -IIIa and protein tyrosine phosphorylation, that is, the involvement of GPIIb-IIIa in dephosphorylation of certain tyrosine phosphorylated proteins

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    pubmed.ncbi.nlm.nih.gov/7687438-involvement-of-gpiib-iiia-on-human-platelets-in-phosphotyrosine-specific-dephosphorylation/
  77. www.tandfonline.com www.tandfonline.com
    Use of allogeneic stem cell transplantation for moderate–severe Glanzmann thrombasthenia
    1
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    URL

    tandfonline.com/doi/full/10.3109/09537104.2014.987225
  78. Local file Local file
    Ruan_et_al-1998-British_Journal_of_Haematology.pdf
    1
    1. ClingenBaseline 25 Oct 2026
      Linkage of four polymorphisms on theaIIbgene

      PMID: 9695983

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there is no specific details of the GT patient's blood that was drawn to study these variants; therefore, there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  79. Local file Local file
    jth_4274 76..91
    1

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  80. Local file Local file
    Spontaneous haemothorax: an uncommon presentation of Glanzmann thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      Spontaneoushaemothorax:anuncommonpresentationofGlanzmannthrombasthenia

      PMID: 12434904

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband with GT; however, the article does not discuss this patient having variants in ITGA2B and/or ITGB3 therefore there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3

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  81. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Anti‐αIIbβ3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations
    1
    1. ClingenBaseline 25 Oct 2026
      Anti‐αIIbβ3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations Mathieu Fiore Corresponding Author E-mail address: mathieu.fiore@chu-bordeaux.fr http://orcid.org/0000-0002-2526-8826 Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Correspondence: Dr Mathieu Fiore, Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires, CHU de Bordeaux, Hôpital Cardiologique, Pessac, France. E‐mail: mathieu.fiore@chu-bordeaux.frSearch for more papers by this author Roseline d'Oiron Centre for Haemophilia and Rare Congenital Disorders, University Hospital Paris‐Sud, AP‐HP, Bicêtre Hospital, Kremlin‐Bicêtre, FranceSearch for more papers by this author Xavier Pillois Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Cardiovascular Adaptation to Ischaemia, Inserm U1034, Pessac, FranceSearch for more papers by this author Marie‐Christine Alessi Laboratory of Haematology, University Hospital of La Timone, French Reference Centre for Rare Platelet Disorders, Marseille, FranceSearch for more papers by this author

      PMID:

      Gene: ITGA2B

      HGNC: 6138

      InsufficientEvidence: Article mentions French gypsy mutation (c.1544+1G>A); however, no single proband to tie information to therefore we have insufficient evidence

      ClinGen General ITGA2B HGNC:6138 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/bjh.15087
  82. www.tandfonline.com www.tandfonline.com
    09537109309013224
    1
    1. ClingenBaseline 25 Oct 2026
      Hereditary Disorders of Platelet Function

      PMID: 21043747

      Gene: N/A

      HGNC: N/A

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This article gives a general overview of bleeding disorders including GT, and variants that have been reported in previous papers.

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    tandfonline.com/doi/pdf/10.3109/09537109309013224
  83. www.jbc.org www.jbc.org
    The αvβ3 Integrin Regulates α5β1-mediated Cell Migration toward Fibronectin
    1
    1. ClingenBaseline 25 Oct 2026
      The αvβ3 Integrin Regulates α5β1-mediated Cell Migration toward Fibronectin

      PMID: 9361020

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions GT variants in ITGA2B/ITGB3; however, there are no GT patients harboring these variants; therefore, there is insufficient evidence

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    URL

    jbc.org/content/272/46/29380.long
  84. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC6487065/
  85. www.sciencedirect.com www.sciencedirect.com
    Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series
    1
    1. ClingenBaseline 25 Oct 2026
      Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series

      PMID: 28341450

      General: ITGA2B and/or ITGB3 (Not mentioned in article; however, implied due to patients having GT)

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions probands with Glanzmann thrombasthenia; however no mention of variants in ITGA2B or ITGB3

      ClinGen General InsufficientEvidence ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0278239116309107
  86. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann’s thrombasthenia
    1
    1. ClingenBaseline 25 Oct 2026
      Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann’s thrombasthenia

      PMID: 18078017

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article summarizes GT and its mechanism of action. No information on GT probands or variants in ITGA2B and/or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ncbi.nlm.nih.gov/pmc/articles/PMC2291310/
  87. www.sciencedirect.com www.sciencedirect.com
    Thrombasthénie de Glanzmann et grossesse : à propos d’un cas, revue de la littérature
    1
    1. ClingenBaseline 25 Oct 2026
      Glanzmann thrombasthenia and pregnancy: about a case, a review of the literature Glanzmann's Thrombasthenia and pregnancy: a case and a review of the literature

      PMID: 14612172

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article is a review of GT and pregnancy. This article mentions a GT proband; however, there is no mention of variants in ITGA2B and/or ITGB3

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 InsufficientEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    sciencedirect.com/science/article/pii/S0750765803003198
  88. www.jbc.org www.jbc.org
    Probing Conformational Changes in the I-like Domain and the Cysteine-rich Repeat of Human β3 Integrins following Disulfide Bond Disruption by Cysteine Mutations IDENTIFICATION OF CYSTEINE 598 INVOLVED IN αIIbβ3 ACTIVATION
    1
    1. ClingenBaseline 25 Oct 2026
      Probing Conformational Changes in the I-like Domain and the Cysteine-rich Repeat of Human β3 Integrins following Disulfide Bond Disruption by Cysteine Mutations IDENTIFICATION OF CYSTEINE 598 INVOLVED IN αIIbβ3 ACTIVATION*

      PMID: 11507099

      Gene: ITGB3

      HGNC: 6156

      PreviouslyPublished: PMID: 3818957, (citation 29 and 46-would not open), 2428841, 2392682, 9684783, (citation 41, 52, 53, 54 would not open), 10233432

      ClinGen General ITGB3 HGNC:6156 PreviouslyPublished inferred_gene_hgnc:6156 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    jbc.org/content/276/42/38628.long
  89. www.ahajournals.org www.ahajournals.org
    Rapid and Simple Platelet Function Assay to Assess Glycoprotein IIb/IIIa Receptor Blockade | Circulation
    1
    1. ClingenBaseline 25 Oct 2026
      Rapid and Simple Platelet Function Assay to Assess Glycoprotein IIb/IIIa Receptor Blockade

      PMID: 9054743

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report

      ClinGen General ITGA2B ITGB3 HGNC:6138 HGNC:6156 NoEvidence inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    ahajournals.org/doi/full/10.1161/01.cir.95.4.860
  90. www.sciencedirect.com www.sciencedirect.com
    Pregnancy in mother with Glanzmann's thrombasthenia and isoantibody against GPIIb–IIIa: Is there a foetal risk?
    1
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    sciencedirect.com/science/article/pii/S0301211505000710
  91. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Novel point mutations in the αIIb subunit (Phe289 → Ser, Glu324 → Lys and Gln747 → Pro) causing thrombasthenic phenotypes in four Japanese patients
    1
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.1998.00824.x
  92. Local file Local file
    bulletin_medical_23_34.pdf
    1

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  93. ashpublications.org ashpublications.org
    Missense mutations in the β3 subunit have a different impact on the expression and function between αIIbβ3 and αvβ3
    1
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    ashpublications.org/blood/article/99/3/931/53564/Missense-mutations-in-the-3-subunit-have-a
  94. www.sciencedirect.com www.sciencedirect.com
    Inherited platelet disorders : Management of the bleeding risk
    1
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    sciencedirect.com/science/article/pii/S1246782018300818
  95. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Signal Peptide Variants that Impair Secretion of Pancreatic Secretory Trypsin Inhibitor (SPINK1) Cause Autosomal Dominant Hereditary Pancreatitis
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC2765331/
  96. onlinelibrary.wiley.com onlinelibrary.wiley.com
    FVIII inhibitor risk correlated with F8 gene variants in 296 unrelated male Chinese patients with haemophilia A
    1
    1. ClingenBaseline 24 Oct 2026
      FVIII inhibitor risk correlated with F8 gene variants in 296 unrelated male Chinese patients with haemophilia A Hongfei Kang, orcid.org/0000-0001-8350-9563 Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorJingjing Li, Department of Education, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorShengmei Chen, Department of Thrombosis and Hemostasis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorBai Li, Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorYin Feng, Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorXiangdong Kong, Corresponding Author kongxd1969@126.com Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China Correspondence Xiangdong Kong, Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, NO.1 Jianshe East Road, Zhengzhou 450052, China. Email: kongxd1969@126.comSearch for more papers by this author

      PMID: 32897612

      Gene: F8

      HGNCID: 3546

      General Gene:F8 HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
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    onlinelibrary.wiley.com/doi/abs/10.1111/hae.14141
  97. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00106-0108.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC1683422/pdf/ajhg00106-0108.pdf
  98. watermark.silverchair.com watermark.silverchair.com
    Untitled document
    1
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    watermark.silverchair.com/104-6-878.pdf
  99. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Defective propeptide processing and abnormal activation underlie the molecular pathology of factor IX Troed-y-Rhiw
    1
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    pubmed.ncbi.nlm.nih.gov/2788012/
  100. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern
    1
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    pubmed.ncbi.nlm.nih.gov/9600455/
  101. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genetic basis and carrier detection of hemophilia B of Chinese origin
    1
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    pubmed.ncbi.nlm.nih.gov/8470048/
  102. www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
    Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
    1
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    www-thieme-connect-com.libproxy.lib.unc.edu/products/ejournals/pdf/10.1160/TH16-05-0375.pdf
  103. www.sciencedirect.com www.sciencedirect.com
    Incidental finding of unreported large duplication in F8 gene during prenatal analysis: Which management for genetic counselling?
    1
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    sciencedirect.com/science/article/pii/S0049384819303275
  104. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects
    1
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    pubmed.ncbi.nlm.nih.gov/8772212/
  105. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00072-0168.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC1682539/pdf/ajhg00072-0168.pdf
  106. link.springer.com link.springer.com
    Theoretical investigation of the structure, detonation properties, and stability of bicyclo[3.2.1]octane derivatives
    1
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    link.springer.com/article/10.1007/s00894-019-4116-2
  107. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a novel mutation in the factor VIII gene causing severe haemophilia A
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6069878/
  108. scielo.conicyt.cl scielo.conicyt.cl
    Liver transplantation in hemophilia A. Report of one case
    1
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    scielo.conicyt.cl/scielo.php
  109. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6599346/
  110. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular defects in haemophilia B: detection by direct restriction enzyme analysis
    1
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    pubmed.ncbi.nlm.nih.gov/1680373/
  111. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6606640/
  112. illiad.lib.unc.edu illiad.lib.unc.edu
    F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes
    1
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    illiad.lib.unc.edu/NOH/illiad.dll
  113. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A homozygous female hemophilia A
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3385172/
  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4527485/
  115. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients
    1
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    pubmed.ncbi.nlm.nih.gov/15086324/
  116. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
    1
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    pubmed.ncbi.nlm.nih.gov/8055323/
  117. link.springer.com link.springer.com
    Therapeutic potential of spheroids of stem cells from human exfoliated deciduous teeth for chronic liver fibrosis and hemophilia A
    1
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    link.springer.com/content/pdf/10.1007/s00383-019-04564-4.pdf
  118. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High resolution melting for F9 gene mutation analysis in patients with haemophilia B
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6343595/
  119. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4287022/
  120. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Phase 1, single‐dose escalating study of marzeptacog alfa (activated), a recombinant factor VIIa variant, in patients with severe hemophilia
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/jth.14247
  121. illiad.lib.unc.edu illiad.lib.unc.edu
    untitled
    1
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    illiad.lib.unc.edu/NOH/illiad.dll
  122. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification of twenty‐one new mutations in the factor IX gene by SSCP analysis
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO
  123. Local file Local file
    OA 5_A short term_Kiran Shakya.indd
    1

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  124. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Molecular pathology of haemophilia B
    1
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    pubmed.ncbi.nlm.nih.gov/2743975/
  125. www-tandfonline-com.libproxy.lib.unc.edu www-tandfonline-com.libproxy.lib.unc.edu
    New technologies in gene therapy for inducing immune tolerance in hemophilia A
    1
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    www-tandfonline-com.libproxy.lib.unc.edu/doi/full/10.1080/1744666X.2018.1539667
  126. www.nature.com www.nature.com
    Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
    1
    1. ClingenBaseline 24 Oct 2026
      Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

      PMID: 7550309

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      ClinGen General Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng0995-27
  127. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments
    1
    1. ClingenBaseline 24 Oct 2026
      Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments

      PMID: 227876

      Gene: PDE6A

      HGNC: 8785

      Disease: retinitis pigmentosa 43

      MONDO: MONDO:0013437

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.

      Penetrance: Known disease-causing alleles appear to be completely penetrant.

      General ClinGen Gene:PDE6A HGNC:8785 inferred_gene_hgnc:8785 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/227876/
  128. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype

      PMID: 9448321

      Gene: GUCY2D

      HGNC: 4689

      Disease: Leber congenital amaurosis 1

      MONDO: 0008764

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.

      Penetrance: Fully penetrant, with onset in neonates or in infancy

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC18742/
  129. journals.physiology.org journals.physiology.org
    Nyctalopin Expression in Retinal Bipolar Cells Restores Visual Function in a Mouse Model of Complete X-Linked Congenital Stationary Night Blindness | Journal of Neurophysiology
    1
    1. ClingenBaseline 24 Oct 2026
      Nyctalopin Expression in Retinal Bipolar Cells Restores Visual Function in a Mouse Model of Complete X-Linked Congenital Stationary Night Blindness

      PMID: 17881478

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    journals.physiology.org/doi/full/10.1152/jn.00608.2007
  130. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
    1
    1. ClingenBaseline 24 Oct 2026
      The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

      PMID: 15207259

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/15207259/
  131. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP
    1
    1. ClingenBaseline 24 Oct 2026
      Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP

      PMID: 30622176

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6347721/
  132. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease
    1
    1. ClingenBaseline 24 Oct 2026
      Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

      PMID: 38184646

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/38184646/
  133. www.sciencedirect.com www.sciencedirect.com
    The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration
    1
    1. ClingenBaseline 24 Oct 2026
      The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration

      PMID: 32828705

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    sciencedirect.com/science/article/pii/S2213231720308867
  134. www.nature.com www.nature.com
    Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
    1
    1. ClingenBaseline 24 Oct 2026
      Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

      PMID: 7647783

      Gene: GPR143

      HGNC: 20145

      Disease: X-linked recessive ocular albinism

      MONDO: 0021019

      InheritancePattern: X-linked recessive

      Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)

      Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.

      General ClinGen Gene:GPR143 HGNC:20145 inferred_gene_hgnc:20145 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng0595-13
  135. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy

      PMID: 23281133

      Gene: RP1L1

      HGNC: 15946

      Disease: occult macular dystrophy

      MONDO: 0013316

      InheritancePattern: autosomal dominant

      Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).

      Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).

      General ClinGen Gene:RP1L1 HGNC:15946 inferred_gene_hgnc:15946 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/23281133/
  136. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa

      PMID: 23661369

      Gene: ADAM9

      HGNC: 216

      Disease: cone-rod dystrophy 9

      MONDO: MONDO:0013002

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.

      Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.

      General ClinGen Gene:ADAM9 HGNC:216 inferred_gene_hgnc:216 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3684217/
  137. iovs.arvojournals.org iovs.arvojournals.org
    The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16
    1
    1. ClingenBaseline 24 Oct 2026
      The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16

      PMID: 14691150

      Gene: IMPG1

      HGNC: 6055

      Disease: vitelliform macular dystrophy 4

      MONDO: 0014508

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG1 HGNC:6055 inferred_gene_hgnc:6055 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  138. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors
    1
    1. ClingenBaseline 24 Oct 2026
      Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors

      PMID: 32385361

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC7210881/
  139. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse
    1
    1. ClingenBaseline 24 Oct 2026
      Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

      PMID: 1992463

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/1992463/
  140. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa

      PMID: 21051334

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/21051334/
  141. www.jbc.org www.jbc.org
    Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity *
    1
    1. ClingenBaseline 24 Oct 2026
      Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity

      PMID: 11306565

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    jbc.org/article/S0021-9258(19)30179-6/fulltext
  142. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium
    1
    1. ClingenBaseline 24 Oct 2026
      SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium

      PMID: 36140676

      Gene: IMPG1

      HGNC: 6055

      Disease: vitelliform macular dystrophy 4

      MONDO: 0014508

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG1 HGNC:6055 inferred_gene_hgnc:6055 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/36140676/
  143. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation
    1
    1. ClingenBaseline 24 Oct 2026
      Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

      PMID: 26061163

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/26061163/
  144. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches
    1
    1. ClingenBaseline 24 Oct 2026
      CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches

      PMID: 23160995

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/23160995/
  145. www.pnas.org www.pnas.org
    RPE65 is the isomerohydrolase in the retinoid visual cycle
    1
    1. ClingenBaseline 24 Oct 2026
      RPE65 is the isomerohydrolase in the retinoid visual cycle

      PMID: 16116091

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pnas.org/content/102/35/12413
  146. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65
    1
    1. ClingenBaseline 24 Oct 2026
      Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65

      PMID: 16828753

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/16828753/
  147. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
    1
    1. ClingenBaseline 24 Oct 2026
      Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

      PMID: 8634705

      Gene: GPR143

      HGNC: 20145

      Disease: X-linked recessive ocular albinism

      MONDO: 0021019

      InheritancePattern: X-linked recessive

      Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)

      Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.

      General ClinGen Gene:GPR143 HGNC:20145 inferred_gene_hgnc:20145 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/8634705/
  148. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

      PMID: 9326941

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/9326941/
  149. academic.oup.com academic.oup.com
    A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
    1
    1. ClingenBaseline 24 Oct 2026
      A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

      PMID: 8634721

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    academic.oup.com/hmg/article/4/12/2415/634651
  150. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance

      PMID: 12552567

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/12552567/
  151. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The rhodopsin cycle is preserved in IRBP "knockout" mice despite abnormalities in retinal structure and function
    1
    1. ClingenBaseline 24 Oct 2026
      The rhodopsin cycle is preserved in IRBP "knockout" mice despite abnormalities in retinal structure and function

      PMID: 10750831

      Gene: RBP3

      HGNC: 9921

      Disease: retinitis pigmentosa 66

      MONDO: 0014093

      InheritancePattern: autosomal recessive

      Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).

      Penetrance: RBP3 disease-causing variants appear to have complete penetrance.

      General ClinGen Gene:RBP3 HGNC:9921 inferred_gene_hgnc:9921 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/10750831/
  152. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    MDC-9 (ADAM-9/Meltrin gamma) functions as an adhesion molecule by binding the alpha(v)beta(5) integrin
    1
    1. ClingenBaseline 24 Oct 2026
      MDC-9 (ADAM-9/Meltrin gamma) functions as an adhesion molecule by binding the alpha(v)beta(5) integrin

      PMID: 11162558

      Gene: ADAM9

      HGNC: 216

      Disease: cone-rod dystrophy 9

      MONDO: MONDO:0013002

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.

      Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.

      General ClinGen Gene:ADAM9 HGNC:216 inferred_gene_hgnc:216 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11162558/
  153. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children
    1
    1. ClingenBaseline 24 Oct 2026
      Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

      PMID: 29522070

      Gene: TRPM1

      HGNC: 7146

      Disease: congenital stationary night blindness 1C

      MONDO: MONDO:0013183

      InheritancePattern: autosomal recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:TRPM1 HGNC:7146 inferred_gene_hgnc:7146 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC5876850/
  154. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes
    1
    1. ClingenBaseline 24 Oct 2026
      Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

      PMID: 26518167

      Gene: BBS7

      HGNC: 18758

      Disease: Bardet-Biedl syndrome 7

      MONDO: 0014435

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS7 HGNC:18758 inferred_gene_hgnc:18758 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/26518167/
  155. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

      PMID: 18976725

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2668042/
  156. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
    1
    1. ClingenBaseline 24 Oct 2026
      Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

      PMID: 21127010

      Gene: PDE6C

      HGNC: 8787

      Disease: cone dystrophy 4

      MONDO: 0013129

      InheritancePattern: recessive

      Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:PDE6C HGNC:8787 inferred_gene_hgnc:8787 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3269206/
  157. www.nature.com www.nature.com
    Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle
    1
    1. ClingenBaseline 24 Oct 2026
      Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle

      PMID: 9843205

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng1298_344
  158. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
    1
    1. ClingenBaseline 24 Oct 2026
      Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration

      PMID: 11095629

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11095629/
  159. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness
    1
    1. ClingenBaseline 24 Oct 2026
      Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness

      PMID: 15331616

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/15331616/
  160. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation
    1
    1. ClingenBaseline 24 Oct 2026
      Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation

      PMID: 18775863

      Gene: PDE6A

      HGNC: 8785

      Disease: retinitis pigmentosa 43

      MONDO: MONDO:0013437

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.

      Penetrance: Known disease-causing alleles appear to be completely penetrant.

      General ClinGen Gene:PDE6A HGNC:8785 inferred_gene_hgnc:8785 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3720143/
  161. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in spliceosomal proteins and retina degeneration
    1
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    pubmed.ncbi.nlm.nih.gov/27302685/
  162. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Photoreceptor Structure in GNAT2-Associated Achromatopsia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7401776/
  163. www.aaojournal.org www.aaojournal.org
    Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
    1
    1. ClingenBaseline 24 Oct 2026
      Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes

      PMID: 25085631

      Gene: IMPG2

      HGNC: 18362

      Disease: retinitis pigmentosa 56

      MONDO: 0013314

      InheritancePattern: semi-dominant

      Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.

      General ClinGen Gene:IMPG2 HGNC:18362 inferred_gene_hgnc:18362 inferred_gene_source:hgnc_tag Retina GCEP
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    aaojournal.org/article/S0161-6420(14)00544-2/fulltext
  164. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish
    1
    1. ClingenBaseline 24 Oct 2026
      A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish

      PMID: 24069149

      Gene: BBS1

      HGNC: 966

      Disease: Bardet-Biedl syndrome 1

      MONDO: 0008854

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS1 HGNC:966 inferred_gene_hgnc:966 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3771994/
  165. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy

      PMID: 19536307

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2697491/
  166. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60
    1
    1. ClingenBaseline 24 Oct 2026
      X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

      PMID: 9855162

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/9855162/
  167. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities
    1
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    pubmed.ncbi.nlm.nih.gov/23189188/
  168. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis
    1
    1. ClingenBaseline 24 Oct 2026
      Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis

      PMID: 30319355

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC6167591/
  169. iovs.arvojournals.org iovs.arvojournals.org
    Identification of the Gene and the Mutation Responsible for the Mouse nob Phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of the Gene and the Mutation Responsible for the Mouse nob Phenotype

      PMID: 12506099

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  170. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

      PMID: 18179896

      Gene: KCNJ13

      HGNC: 6259

      Disease: snowflake vitreoretinal degeneration

      MONDO: 0008663

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of snowflake vitreoretinal degeneration is ~1 in 1,000,000 (https://www.orpha.net/en/disease/detail/91496).

      Penetrance: Known disease-causing alleles appear to be completely penetrant (PMID: 14644728).

      General ClinGen Gene:KCNJ13 HGNC:6259 inferred_gene_hgnc:6259 inferred_gene_source:hgnc_tag Retina GCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC2253967/
  171. www.pnas.org www.pnas.org
    Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
    1
    1. ClingenBaseline 24 Oct 2026
      Leber congenital amaurosis

      PMID: 9501220

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    pnas.org/content/95/6/3088
  172. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
    1
    1. ClingenBaseline 24 Oct 2026
      Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

      PMID: 12118255

      Gene: BBS1

      HGNC: 966

      Disease: Bardet-Biedl syndrome 1

      MONDO: 0008854

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).

      Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.

      General ClinGen Gene:BBS1 HGNC:966 inferred_gene_hgnc:966 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/12118255/
  173. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
    1
    1. ClingenBaseline 24 Oct 2026
      Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

      PMID: 22503633

      Gene: IFT140

      HGNC: 29077

      Disease: Short-rib thoracic dysplasia 9 with or without polydactyly

      MONDO: 0009964

      InheritancePattern: autosomal recessive

      Prevalence: Within the lumped disease entity for this curation, the most prevalent form may be retinitis pigmentosa. The prevalence of Saldino-Mainzer syndrome (one of the synonyms of Short-rib thoracic dysplasia 9) is less than 1 in 1,000,000. The prevalence of Leber congenital amaurosis cases caused by IFT140 variants (PMID: 26216056) is calculated to be less than 1 in 3,000,000. Although IFT140 variants are estimated to be responsible for less than 2% of RP, the prevalence of the overall disorder at 1 in 3,000 or 1 in 4,000 means the frequency of these cases could potentially be higher than 1 in 1,000,000.

      Penetrance: Known variants for this lumped disease entity appear to be completely penetrant, with highly variable phenotypes and age of onset. On the other hand, the split disease entity caused by monoallelic IFT140 variants appears to have incomplete penetrance.

      General ClinGen Gene:IFT140 HGNC:29077 inferred_gene_hgnc:29077 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC3376548/
  174. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.
    1
    1. ClingenBaseline 24 Oct 2026
      Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

      PMID: 8981947

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1712563/
  175. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene
    1
    1. ClingenBaseline 24 Oct 2026
      Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

      PMID: 15623792

      Gene: CRB1

      HGNC: 2343

      Disease: pigmented paravenous retinochoroidal atrophy

      MONDO: 0008246

      InheritancePattern: autosomal dominant

      Prevalence: Orphanet defines pigmented paravenous retinochoroidal atrophy as a rare disorder with incidence lower than 1 in 1,000,000. However, the incidence is not well-reported in published papers and may be more common than this.

      Penetrance: The paper reporting affected family members shows 6 affected genotype-positive individuals and 1 unaffected genotype-negative individual. On the other hand, the high frequency of the variant in gnomAD would be consistent with incomplete penetrance or low rate of diagnosis.

      General ClinGen Gene:CRB1 HGNC:2343 inferred_gene_hgnc:2343 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/15623792/
  176. iovs.arvojournals.org iovs.arvojournals.org
    A Homozygosity-Based Search for Mutations in Patients with Autosomal Recessive Retinitis Pigmentosa, Using Microsatellite Markers
    1
    1. ClingenBaseline 24 Oct 2026
      A Homozygosity-Based Search for Mutations in Patients with Autosomal Recessive Retinitis Pigmentosa, Using Microsatellite Markers

      PMID: 15557452

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 20

      MONDO: 0013425

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.

      Penetrance: Fully penetrant, with onset typically in childhood

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  177. link.springer.com link.springer.com
    A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features
    1
    1. ClingenBaseline 24 Oct 2026
      A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby’s fundus dystrophy with unusual clinical features

      PMID: 9760202

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    link.springer.com/article/10.1007/PL00008707
  178. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Spectrum of retGC1 mutations in Leber's congenital amaurosis
    1
    1. ClingenBaseline 24 Oct 2026
      Spectrum of retGC1 mutations in Leber's congenital amaurosis

      PMID: 10951519

      Gene: GUCY2D

      HGNC: 4689

      Disease: Leber congenital amaurosis 1

      MONDO: 0008764

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.

      Penetrance: Fully penetrant, with onset in neonates or in infancy

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/10951519/
  179. iovs.arvojournals.org iovs.arvojournals.org
    A Mouse Model for Sorsby Fundus Dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      A Mouse Model for Sorsby Fundus Dystrophy

      PMID: 12147610

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  180. www.molvis.org www.molvis.org
    The clinical features of retinal disease due to a dominant mutation in RPE65
    1
    1. ClingenBaseline 24 Oct 2026
      The clinical features of retinal disease due to a dominant mutation in RPE65

      PMID: 27307694

      Gene: RPE65

      HGNC: 10294

      Disease: Retinitis pigmentosa 87 with choroidal involvement

      MONDO: 0032873

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.

      Penetrance: Incomplete penetrance, estimated at 80%

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    molvis.org/molvis/v22/626/
  181. www.jbc.org www.jbc.org
    SOST Is a Ligand for LRP5/LRP6 and a Wnt Signaling Inhibitor *
    1
    1. ClingenBaseline 24 Oct 2026
      SOST Is a Ligand for LRP5/LRP6 and a Wnt Signaling Inhibitor

      PMID: 15908424

      Gene: LRP5

      HGNC: 6697

      Disease: osteoporosis-pseudoglioma syndrome

      MONDO: 0009820

      InheritancePattern: autosomal recessive

      Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.

      Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.

      General ClinGen Gene:LRP5 HGNC:6697 inferred_gene_hgnc:6697 inferred_gene_source:hgnc_tag Retina GCEP
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    jbc.org/article/S0021-9258(20)56693-3/fulltext
  182. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?
    1
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    pubmed.ncbi.nlm.nih.gov/36342076/
  183. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
    1
    1. ClingenBaseline 24 Oct 2026
      Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

      PMID: 19409519

      Gene: ADAM9

      HGNC: 216

      Disease: cone-rod dystrophy 9

      MONDO: MONDO:0013002

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.

      Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.

      General ClinGen Gene:ADAM9 HGNC:216 inferred_gene_hgnc:216 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC2681008/
  184. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa
    1
    1. ClingenBaseline 24 Oct 2026
      Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa

      PMID: 11427722

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11427722/
  185. www.cell.com www.cell.com
    A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

      PMID: 9683616

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    cell.com/ajhg/fulltext/S0002-9297(07)61509-2
  186. www.nature.com www.nature.com
    CLN5 , a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
    1
    1. ClingenBaseline 24 Oct 2026
      CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

      PMID: 9662406

      Gene: CLN5

      HGNC: 2076

      Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)

      MONDO: 0009745

      InheritancePattern: Autosomal Recessive

      Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)

      Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life

      General ClinGen Gene:CLN5 HGNC:2076 inferred_gene_hgnc:2076 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/ng0798_286
  187. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    X-linked recessive atrophic macular degeneration from RPGR mutation
    1
    1. ClingenBaseline 24 Oct 2026
      X-linked recessive atrophic macular degeneration from RPGR mutation

      PMID: 12160730

      Gene: RPGR

      HGNC: 10295

      Disease: RPGR-related retinopathy

      MONDO: MONDO:0100437

      InheritancePattern: X-linked

      Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).

      Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.

      General ClinGen Gene:RPGR HGNC:10295 inferred_gene_hgnc:10295 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/12160730/
  188. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Biochemical analysis of phenotypic diversity associated with mutations in codon 244 of the retinal degeneration slow gene
    1
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    pubmed.ncbi.nlm.nih.gov/20055437/
  189. www.pnas.org www.pnas.org
    Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone–rod dystrophy
    1
    1. ClingenBaseline 24 Oct 2026
      Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone–rod dystrophy

      PMID: 10430891

      Gene: GUCY2D

      HGNC: 4689

      Disease: Cone-rod dystrophy 6

      MONDO: 0011143

      InheritancePattern: Autosomal Dominant

      Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.

      Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pnas.org/content/96/16/9039
  190. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
    1
    1. ClingenBaseline 24 Oct 2026
      The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition

      PMID: 11071390

      Gene: NR2E3

      HGNC: 7974

      Disease: enhanced S-cone syndrome

      MONDO: 0100288

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).

      Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.

      General ClinGen Gene:NR2E3 HGNC:7974 inferred_gene_hgnc:7974 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/11071390/
  191. jamanetwork.com jamanetwork.com
    Clinical Course and Visual Function in a Family With Mutations in the RPE65 Gene
    1
    1. ClingenBaseline 24 Oct 2026
      Clinical Course and Visual Function in a Family With Mutations in the RPE65 Gene

      PMID: 11786058

      Gene: RPE65

      HGNC: 10294

      Disease: Leber congenital amaurosis 2

      MONDO: 0008765

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.

      Penetrance: Fully penetrant, with onset typically by 1 year of age

      General ClinGen Gene:RPE65 HGNC:10294 inferred_gene_hgnc:10294 inferred_gene_source:hgnc_tag Retina GCEP
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/269306
  192. www.cell.com www.cell.com
    Low-Density Lipoprotein Receptor-Related Protein-5 Binds to Axin and Regulates the Canonical Wnt Signaling Pathway
    1
    1. ClingenBaseline 24 Oct 2026
      Low-Density Lipoprotein Receptor-Related Protein-5 Binds to Axin and Regulates the Canonical Wnt Signaling Pathway

      PMID: 11336703

      Gene: LRP5

      HGNC: 6697

      Disease: osteoporosis-pseudoglioma syndrome

      MONDO: 0009820

      InheritancePattern: autosomal recessive

      Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.

      Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.

      General ClinGen Gene:LRP5 HGNC:6697 inferred_gene_hgnc:6697 inferred_gene_source:hgnc_tag Retina GCEP
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    cell.com/molecular-cell/fulltext/S1097-2765(01)00224-6
  193. academic.oup.com academic.oup.com
    Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype
    1
    1. ClingenBaseline 24 Oct 2026
      Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype

      PMID: 26188004

      Gene: PDE6A

      HGNC: 8785

      Disease: retinitis pigmentosa 43

      MONDO: MONDO:0013437

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.

      Penetrance: Known disease-causing alleles appear to be completely penetrant.

      General ClinGen Gene:PDE6A HGNC:8785 inferred_gene_hgnc:8785 inferred_gene_source:hgnc_tag Retina GCEP
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    academic.oup.com/hmg/article/24/19/5486/584002
  194. link.springer.com link.springer.com
    Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene
    1
    1. ClingenBaseline 24 Oct 2026
      Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene

      PMID: 12397430

      Gene: NYX

      HGNC: 8082

      Disease: Congenital stationary night blindness 1A

      MONDO: 0010690

      InheritancePattern: X-linked recessive

      Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.

      Penetrance: Penetrance is thought to be complete.

      General ClinGen Gene:NYX HGNC:8082 inferred_gene_hgnc:8082 inferred_gene_source:hgnc_tag Retina GCEP
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    link.springer.com/article/10.1007/s00417-002-0562-z
  195. www.nature.com www.nature.com
    A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
    1
    1. ClingenBaseline 24 Oct 2026
      A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

      PMID: 27601084

      Gene: TIMP3

      HGNC: 11822

      Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy

      MONDO: 0007640

      InheritancePattern: Autosomal Dominant

      Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)

      Penetrance: Fully penetrant, onset between the third and sixth decades of life

      General ClinGen Gene:TIMP3 HGNC:11822 inferred_gene_hgnc:11822 inferred_gene_source:hgnc_tag Retina GCEP
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    nature.com/articles/srep32544
  196. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    EYS is a major gene for rod-cone dystrophies in France
    1
    1. ClingenBaseline 24 Oct 2026
      PMID: 20333770

      PMID: 20333770

      Gene: EYS

      HGNC: 21555

      Disease: Retinitis pigmentosa 25

      MONDO: MONDO:0011272

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.

      Penetrance: The disease appears to be completely penetrant among published families.

      General ClinGen Gene:EYS HGNC:21555 inferred_gene_hgnc:21555 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/20333770/
  197. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
    1
    1. ClingenBaseline 24 Oct 2026
      A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

      PMID: 8485575

      Gene: PRPH2

      HGNC: 9942

      Disease: retinitis pigmentosa 7

      MONDO: 0011974

      InheritancePattern: semi-dominant

      Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).

      Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).

      General ClinGen Gene:PRPH2 HGNC:9942 inferred_gene_hgnc:9942 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/8485575/
  198. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13
    1
    1. ClingenBaseline 24 Oct 2026
      Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

      PMID: 8641699

      Gene: GUCY2D

      HGNC: 4689

      Disease: Leber congenital amaurosis 1

      MONDO: 0008764

      InheritancePattern: Autosomal Recessive

      Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.

      Penetrance: Fully penetrant, with onset in neonates or in infancy

      General ClinGen Gene:GUCY2D HGNC:4689 inferred_gene_hgnc:4689 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/8641699/
  199. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The network of protein–protein interactions within the human U4/U6.U5 tri-snRNP
    1
    1. ClingenBaseline 24 Oct 2026
      The network of protein–protein interactions within the human U4/U6.U5 tri-snRNP

      PMID: 16723661

      Gene: PRPF4

      HGNC: 17349

      Disease: retinitis pigmentosa 70

      MONDO: 0014400

      InheritancePattern: autosomal dominant

      Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.

      Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).

      General ClinGen Gene:PRPF4 HGNC:17349 inferred_gene_hgnc:17349 inferred_gene_source:hgnc_tag Retina GCEP
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    ncbi.nlm.nih.gov/pmc/articles/PMC1484429/
  200. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
    1
    1. ClingenBaseline 24 Oct 2026
      Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

      PMID: 16960802

      Gene: CABP4

      HGNC: 1386

      Disease: cone-rod synaptic disorder, congenital nonprogressive

      MONDO: 0012490

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).

      Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.

      General ClinGen Gene:CABP4 HGNC:1386 inferred_gene_hgnc:1386 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/16960802/