1,647 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10145473/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8148585/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations identified in pediatric patients with dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3072577/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2986634/
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Variant R94C in TNNT2‐Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7335540/
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2900861/
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system
    2
    1. ClingenBaseline 07 Nov 2026
      A86

      Case#: Male, 47

      DiseaseAssertion: hypertrophic cardiomyopathy

      FamilyInfo:

      ParentalTesting:

      CasePresentingHPOs: HP:0025169, HP:0034307, HP:0001712,

      CaseHPOFreeText: Severe alterations in inter ventricular septum thickness and left ventricular posterior wall thickness

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: NA

      Variant: NM_001276345.2:c.423G>A

      ClinVar: NR

      CAID: CA422532259

      gnomAD: NR

      AdditionalInfo: IVST, average of 19.2 mm and LVPWT; average of 11.5 mm

      Gene:TNNT2 General CaseInfo inferred_gene_hgnc:11949 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4867886/
  9. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10452740/
  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7447477/
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC9794189/
  12. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutation Type is Not Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6309993/
  13. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional annotation of TNNT2 variants of uncertain significance with genome-edited cardiomyocytes
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6309910/
  14. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A TNNT2 variant in a sporadic case of dilated cardiomyopathy: a case report and review
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13061692/
  15. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5715713/
  16. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic cardiomyopathy mimicking isolated cardiac sarcoidosis: Diagnostic challenges with positron emission tomography
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12055401/
  17. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Air bubbles around the heart: a rare case report of pneumohydropericardium in heart transplantation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11851115/
  18. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients
    1
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    onlinelibrary.wiley.com/doi/full/10.1002/jcla.22303
  19. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Late Onset Sporadic Dilated Cardiomyopathy Caused by a Cardiac Troponin T Mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2965560/
  20. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    CLC_20795.DVV
    1
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    pmc.ncbi.nlm.nih.gov/articles/instance/6653452/pdf/CLC-33-430.pdf
  21. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Whole genome sequencing in paediatric channelopathy and cardiomyopathy
    1
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    pubmed.ncbi.nlm.nih.gov/38586174/
  22. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3237499/
  23. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10657276/
  24. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes
    1
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    pubmed.ncbi.nlm.nih.gov/31361967/
  25. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The TNNI3 Arg192His mutation in a 13-year-old girl with left ventricular noncompaction
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6149604/
  26. www.ahajournals.org www.ahajournals.org
    Chronic Activation of Tubulin Tyrosination Improves Heart Function | Circulation Research
    1
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    ahajournals.org/doi/10.1161/circresaha.124.324387
  27. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6687666/
  28. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hydroxychloroquine Cardiotoxicity and Sarcomeric Hypertrophic Cardiomyopathy
    1
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    pubmed.ncbi.nlm.nih.gov/40514126/
  29. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5421475/
  30. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Setting up Multiplex Panels for Genetic Testing of Familial Hypertrophic Cardiomyopathy Based on Linkage Analysis
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4851747/
  31. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A myosin activator improves actin assembly and sarcomere function of human-induced pluripotent stem cell-derived cardiomyocytes with a troponin T point mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4967204/
  32. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC)
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6055742/
  33. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Is genomic screening necessary for fetuses who suffer moderate to severe tricuspid regurgitation? A case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6890352/
  34. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5514196/
  35. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Furthering the Link Between the Sarcomere and Primary Cardiomyopathies: Restrictive Cardiomyopathy Associated with Multiple Mutations in Genes Previously Associated With Hypertrophic or Dilated Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC3158811/
  36. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC4620603/
  37. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8483030/
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6043467/
  39. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7546790/
  40. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC8026398/
  41. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Ventricular Tachycardia in a Young Athlete With Prior Myocarditis and MYL2 Mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13379853/
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6672024/
  43. Oct 2026
  44. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease‐associated genes in the Hispanic population
    1
    1. Yukesh 30 Oct 2026
      Matching heterogeneous cohorts by projected principal components reveals two novel Alzheimer's disease‐associated genes in the Hispanic population

      PMID: 41755704

      Gene: GDAP2

      HGNC: 18010

      AdditionalInfo: No evidence found. Genome-wide association study of Alzheimer's disease in Hispanic participants. A rare variant (rs935208076) approximately 50 kb from GDAP2 reached genome-wide significance in one of two meta-analyses (All of Us participants matched by genetic principal components, age and sex; Table 2), and was not confirmed in other independent cohorts (Results 3.5). No SCAR27 cases or GDAP2 variants in ataxia patients reported. Authors propose GDAP2 as a novel Alzheimer's disease-associated gene.

      General Gene:GDAP2 HGNC:18010 NoEvidence
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    pmc.ncbi.nlm.nih.gov/articles/PMC12946819/
  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC10978967/
  46. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Diverse Phenotypic Expression of Cardiomyopathies in a Family with TNNI3 p.Arg145Trp Mutation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5378035/
  47. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6451262/
  48. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Progressive Deterioration of the Right Ventricular Function in a Patient with Non-Obstructive HCM Complicated by Atrial Fibrillation: A Case Presentation
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC12254914/
  49. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC7985525/
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy, A Classic Single Gene Disorder
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5380229/
  51. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2986634/
  52. ashpublications.org ashpublications.org
    A potential role for α-actinin in inside-out αIIbβ3 signaling
    1
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    ashpublications.org/blood/article/117/1/250/28748/A-potential-role-for-actinin-in-inside-out-IIb-3
  53. www.sciencedirect.com www.sciencedirect.com
    Inherited traits affecting platelet function
    1
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    sciencedirect.com/science/article/pii/S0268960X07000719
  54. link.springer.com link.springer.com
    Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy
    1
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    link.springer.com/article/10.1007/s12185-016-2096-x
  55. reader.elsevier.com reader.elsevier.com
    PII: S0049-3848(99)00034-1
    1
    1. ClingenBaseline 27 Oct 2026
      Inhibition of Platelet Aggregation byAbciximab but Not by Aspirin Can BeDetected by a New Point-of-Care Test, the Hemostatus

      PMID: 10418797

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

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

      PreviouslyPublished: The GT patient in this article has been previously published in this PMID: 2180491

      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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    reader.elsevier.com/reader/sd/pii/S0049384899000341
  56. ashpublications.org ashpublications.org
    Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor–independent thrombin generation
    1
    1. ClingenBaseline 27 Oct 2026
      Recombinant factor VIIa enhances deposition of platelets with congenital or acquired αIIbβ3 deficiency to endothelial cell matrix and collagen under conditions of flow via tissue factor–independent thrombin generation

      PMID: 12411291

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article does not mention GT probands with variants in ITGA2B and/or ITGB3 therefore there is no evdience; however, there may be potenetial experimental assay information

      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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    ashpublications.org/blood/article/101/5/1864/106606/Recombinant-factor-VIIa-enhances-deposition-of
  57. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    biochemj00164-0222.pdf
    1
    1. ClingenBaseline 27 Oct 2026
      Interactionofhumanplateletswithlamininandidentificationofthe67kDalamininreceptoronplatelets

      PMID: 1826081

      Gene: ITGA2B and ITGB3 (we are noting these gene names even though there is no evidence for GT in this article, because we are curating for these genes-- CThaxton advised it would be a good idea to always note down Genes and HGNC)

      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. The studies performed in this article were undertaken to characterize the interaction of platelets with laminin.

      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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    ncbi.nlm.nih.gov/pmc/articles/PMC1150172/pdf/biochemj00164-0222.pdf
  58. Local file Local file
    CPLA_A_573600_P 547..551
    1

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  59. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature
    1
    1. ClingenBaseline 27 Oct 2026
      Successful Management of Acute Catastrophic Juvenile Vaginal Bleeding in Glanzmann's Thromboasthenia by Uterine Tamponade: A Case Report and Review of The Literature

      PMID: 22928124

      Genes: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article reports a case of acute catastrophic vaginal bleeding in a girl, who was diagnosed with GT and responded to uterine tamponade for acute control of vaginal bleeding; however, no variants in ITGA2B and/or ITGB3 are mentioned in this article 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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    ncbi.nlm.nih.gov/pmc/articles/PMC3420404/
  60. www.tandfonline.com www.tandfonline.com
    08880019709030883
    1
    1. ClingenBaseline 27 Oct 2026
      FLOW CYTOMETRIC ANALYSIS OF PLATELET SURFACE GLYCOPROTEINS IN THE DIAGNOSIS OF BERNARD-SOULIER SYNDROME

      PMID: 9021812

      Gene: ITGA2B and 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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    tandfonline.com/doi/pdf/10.3109/08880019709030883
  61. reader.elsevier.com reader.elsevier.com
    PII: 0049-3848(91)90340-3
    1
    1. ClingenBaseline 27 Oct 2026
      VISUALIZATION OF PLATELET GLYCOPROTEINS Ib AND IIIa BY IMMUNOENZYMATIC STAIN USING AVIDIN-BIOTIN PEROXIDASE COMPLE

      PMID: 1788826

      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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    reader.elsevier.com/reader/sd/pii/0049384891903403
  62. watermark.silverchair.com watermark.silverchair.com
    4712.pdf
    1
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    watermark.silverchair.com/4712.pdf
  63. www.ahajournals.org www.ahajournals.org
    Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia | Arteriosclerosis, Thrombosis, and Vascular Biology
    1
    1. ClingenBaseline 27 Oct 2026
      Platelet Glycoprotein IIb/IIIa Receptors and Glanzmann’s Thrombasthenia Deborah L. French and Uri SeligsohnFrom the Mount Sinai School of Medicine (D.L.F.), New York, NY, and The Chaim Sheba Medical Center (U.S.), Tel-Hashomer, Israel.

      PMID: 10712380

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This review mentions many variants in ITGA2B and ITGB3; however, there are no probands to tie these variants to 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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    ahajournals.org/doi/full/10.1161/01.atv.20.3.607
  64. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia
    1
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    onlinelibrary.wiley.com/doi/full/10.1046/j.1365-2141.1998.00852.x
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend
    1
    1. ClingenBaseline 27 Oct 2026
      The GPIIb/IIIa (integrin αIIbβ3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend

      PMID: 18840725

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article is a review discussing the integrin αIIbβ3, there is no mention of probands with variants in ITGA2B and/or ITGB3

      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/PMC2569161/
  66. reader.elsevier.com reader.elsevier.com
    doi:10.1016/S1040-8428(03)00117-3
    1
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    reader.elsevier.com/reader/sd/pii/S1040842803001173
  67. www.haematologica.org www.haematologica.org
    A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia
    1
    1. ClingenBaseline 27 Oct 2026
      A simple, novel and robust test to diagnose type I Glanzmann thrombasthenia

      PMID: 18450741

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InusufficientEvidence: This article used a bifunctional bioengineered disintegrin/alkaline phosphatase hybrid protein ErAPv to evaluate 14 consecutive cases of Glanzmann thrombasthenia and 20 normal healthy controls. Thererefore, GT probands are mentioned; however, no specific variants in ITGA2B and/or ITBG3 have been mentioned in these patients

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

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    URL

    haematologica.org/content/93/5/797
  68. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Rare Case of Bleeding Disorder: Glanzmann's Thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5676411/
  69. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC3907760/
  70. www.jimmunol.org www.jimmunol.org
    Human IgG Monoclonal Anti-αIIbβ3-Binding Fragments Derived from Immunized Donors Using Phage Display
    1
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    URL

    jimmunol.org/content/168/4/2035
  71. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    pnas01058-0202.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC51405/pdf/pnas01058-0202.pdf
  72. www.sciencedirect.com www.sciencedirect.com
    Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses?
    1
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    sciencedirect.com/science/article/pii/S0268960X17300073
  73. onlinelibrary.wiley.com onlinelibrary.wiley.com
    From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia
    1
    1. ClingenBaseline 27 Oct 2026
      From thrombasthenia to next generation thrombocytopenia: Neonatal alloimmune thrombocytopenia induced by maternal Glanzmann thrombasthenia

      PMID: 30216638

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions mothers with GT and their newborns. Table 1 shows very general/vague genetic data for the mothers, it is not easy to determine what the actual genetic defects are from Table 1; 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

    onlinelibrary.wiley.com/doi/full/10.1002/pbc.27376
  74. stke.sciencemag.org stke.sciencemag.org
    Platelets contribute to amyloid-β aggregation in cerebral vessels through integrin αIIbβ3–induced outside-in signaling and clusterin release
    1
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    stke.sciencemag.org/content/9/429/ra52.full
  75. Local file Local file
    untitled
    1
    1. ClingenBaseline 27 Oct 2026
      Allogeneic Hematopoietic Stem Cell Transplantation in Glanzmann Thrombasthenia Complicated by Platelet Alloimmunization

      PMID: 21567370

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a proband with GT; however, no mention of the proband with variants in ITGA2B and 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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  76. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ajhg00052-0146.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC1682221/pdf/ajhg00052-0146.pdf
  77. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    1021183.pdf
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC509101/pdf/1021183.pdf
  78. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report
    1
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC9424730/
  79. www.tandfonline.com www.tandfonline.com
    A novel 196Leu to Pro substitution in the beta 3 subunit of the alpha IIbbeta 3 integrin in a patient with a variant form of Glanzmann thrombasthenia
    1
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    URL

    tandfonline.com/doi/pdf/10.1080/09537100220122466
  80. www.jbc.org www.jbc.org
    The Role of Conserved Amino Acid Motifs within the Integrin β3 Cytoplasmic Domain in Triggering Focal Adhesion Kinase Phosphorylation
    1
    1. ClingenBaseline 26 Oct 2026
      The Role of Conserved Amino Acid Motifs within theIntegrinb3Cytoplasmic Domain in Triggering FocalAdhesion Kinase Phosphorylation*

      PMID: 9065456

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, no specific GT probands are mentioned harboring these variants 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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    jbc.org/content/272/12/7892.full.pdf
  81. Local file Local file
    Qualitative disorders of platelets and megakaryocytes
    1

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  82. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Platelet and granulocyte alloimmunisation in multitransfused Tunisian patients
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet and granulocyte alloimmunisation in multitransfused Tunisian patients

      PMID: 16104882

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: The purpose of our study was to determine the frequency of alloimmunisation against platelets and leukocytes in multiply transfused Tunisian patients; there are 3 GT probands in this article; however, no mention of variants in ITGA2B and/or ITBG3; 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

    onlinelibrary.wiley.com/doi/full/10.1111/j.1600-0609.2005.00494.x
  83. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A naturally occurring mutation near the C terminus of the β‐propeller of αIIb impair the transport of αIIbβ3 complexes from the endoplasmic reticulum to the Golgi apparatus
    1
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2005.01386.x
  84. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Platelet collagen receptor Glycoprotein VI‐dimer recognizes fibrinogen and fibrin through their D‐domains, contributing to platelet adhesion and activation during thrombus formation
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet collagen receptor Glycoprotein VI-dimer recognizesfibrinogen and fibrin through their D-domains, contributing toplatelet adhesion and activation during thrombus formation

      PMID: 29210180

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156

      NoEvidence: Article does not mention GT probands with specific variants in ITGA2B and/or ITGB3

      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/PMC5838801/pdf/JTH-16-389.pdf
  85. Local file Local file
    Novel mutations in Thai patients with glanzmann thrombasthenia
    1

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  86. Local file Local file
    A 10-Base-Pair Deletion in the Gene Encoding Platelet Glycoprotein IIb Associated with Glanzmann Thrombasthenia in a Horse
    1
    1. ClingenBaseline 26 Oct 2026
      A 10-Base-Pair Deletion in the Gene Encoding Platelet GlycoproteinIIb Associated with Glanzmann Thrombasthenia in a Horse

      PMID: 17338169

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article discusses a 10 base pair deletion in GT; however, in a horse, not human 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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  87. watermark.silverchair.com watermark.silverchair.com
    3212.pdf
    1
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    watermark.silverchair.com/3212.pdf
  88. journals.lww.com journals.lww.com
    Glanzmann thrombasthenia detected because of knee... : Journal of Pediatric Orthopaedics B
    1
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    journals.lww.com/jpo-b/Pages/articleviewer.aspx
  89. watermark.silverchair.com watermark.silverchair.com
    1857.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      A Point Mutation in the Integrin p3 Cytoplasmic Domain (S752 + P) Impairs Bidirectional Signaling Through aIIbP3 (Platelet Glycoprotein IIb-IIIa)

      PMID: 8080992

      Gene: ITGB3

      HGNC: 6138

      InsufficentEvidence: This article mentions a variant in ITGB3; however, the article does not mention a GT case report with the variant in detail, rather this paper cites another paper of a proband harboring the variant of interest

      ClinGen General ITGB3 HGNC:6138 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/1857.pdf
  90. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin β3 gene as a cause of the absence of platelet αIIbβ3 in Glanzmann's thrombasthenia
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2004.00990.x
  91. journals.sagepub.com journals.sagepub.com
    Glanzmann's Thrombasthenia Proposed Optimal Management During Surgery and Delivery
    1
    1. ClingenBaseline 26 Oct 2026
      Glanzmann'sThrombastheniaProposedOptimalManagementDuringSurgeryandDelivery

      PMID: 12812388

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a 34 year old proband with GT; however, there is no mention of variants in ITGA2B and/or ITGB3 in the proband that is mentioned

      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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    journals.sagepub.com/doi/pdf/10.1177/107602960300900213
  92. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC1569905/
  93. search.proquest.com search.proquest.com
    Successful surgery using recombinant factor VIIa for recurrent, idiopathic nonulcer duodenal bleeding in a patient with Glanzmann's thrombasthenia - ProQuest
    1
    1. ClingenBaseline 26 Oct 2026
      Successful surgery using recombinant factor VIIa for recurrent, idiopathic nonulcer duodenal bleeding in a patient with Glanzmann's thrombasthenia

      PMID: 12353868

      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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    search.proquest.com/docview/214344961
  94. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/24418945
  95. watermark.silverchair.com watermark.silverchair.com
    2-12-2179.pdf
    1
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    watermark.silverchair.com/2-12-2179.pdf
  96. www.tandfonline.com www.tandfonline.com
    Glanzmann's thrombasthenia in North Indians: Sub classification and carrier detection by flow cytometry
    1
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    tandfonline.com/doi/full/10.1080/09537100802434853
  97. ashpublications.org ashpublications.org
    A Leu262Pro mutation in the integrin β3 subunit results in an αIIb-β3 complex that binds fibrin but not fibrinogen
    1
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    ashpublications.org/blood/article/96/1/161/257783/A-Leu262Pro-mutation-in-the-integrin-3-subunit
  98. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Insertion of a C in the exon 28 of integrin αIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case
    1
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1538-7836.2005.01160.x
  99. www.fertstert.org www.fertstert.org
    Endometriosis in two sisters with Glanzmann's thrombasthenia
    1
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    fertstert.org/article/S0015-0282(09)01417-4/fulltext
  100. watermark.silverchair.com watermark.silverchair.com
    369.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet Glycoprotein IIb-III, (ffIIbp3 Integrin) Confers Fibrinogen- and Ac tiva tion-Dependen t Aggregation on Heterologous Cells

      PMID: 2070074

      Gene: N/A

      HGNC: N/A

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

      Note: Although there is no evidence regarding GT probands and variants-- there is some experimental assay evidence, where methods for the experiment may be useful

      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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    watermark.silverchair.com/369.pdf
  101. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Thrombasthénie de Glanzmann et grossesse: à propos d'un cas et revue de la littérature
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3290891/
  102. Local file Local file
    hae_2856 154..160
    1

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  103. Local file Local file
    REV_ISS_WEB_jop_1151_42-2 115..124
    1

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  104. pdfs.semanticscholar.org pdfs.semanticscholar.org
    2004_12 v6
    1
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    pdfs.semanticscholar.org/ea15/4e8bf3f924f2bd0cb0a3dcbfbfd647a2c102.pdf
  105. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    Glanzmann thrombasthenia: An update
    1
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    pdf.sciencedirectassets.com/271330/1-s2.0-S0009898109X00136/1-s2.0-S0009898109005439/main.pdf
  106. www.jisppd.com www.jisppd.com
    Hematological and surgical management in Glanzmann's thrombasthenia: A case report
    1
    1. ClingenBaseline 26 Oct 2026
      Hematological and surgical management in Glanzmann's thrombasthenia: A case report

      PMID: 24739923

      Gene: ITGA2B and/or ITGB3 (These genes may be involved since this patient has GT)

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions a case report of an individual with Glanzmann thrombasthenia; however, there are no ITGA2B or ITGB3 variants in this proband

      ClinGen General InsufficientEvidence ITGA2B ITGB3 HGNC:6138 HGNC:6156 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    jisppd.com/article.asp
  107. instructure-uploads.s3.amazonaws.com instructure-uploads.s3.amazonaws.com
    Revista 6-2 jul-dec 2007.p65
    1
    1. ClingenBaseline 26 Oct 2026
      Norethisterone therapy for bleeding due to gastrointestinaltelangiectases in Glanzmann’s thrombasthenia

      PMID: 9504647

      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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    instructure-uploads.s3.amazonaws.com/account_32860000000000001/attachments/2737386/Inoki et al 2002.pdf
  108. pdfs.semanticscholar.org pdfs.semanticscholar.org
    45-1.pmd
    1
    1. ClingenBaseline 26 Oct 2026
      Pyelolithotomy in a patient with Glanzmann thrombasthenia andantiglycoprotein IIb/IIIa antibodies: the shortest possibleduration of treatment with recombinant activated factor VII andplatelet transfusions

      PMID: 12718376

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: Thus article mentions a Glanzmann thrombasthenia proband; however, no variants in ITGA2B and/or ITGB3 were reported in this patient

      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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    pdfs.semanticscholar.org/32b7/5f1634f42d615e8b0692aa59f2d7ce5fe46f.pdf
  109. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Role of RFLP using TspRI for carrier detection in Glanzmann’s thrombasthenia: a report on two families
    1
    1. ClingenBaseline 26 Oct 2026
      Role of RFLP using TspRI for carrier detection in Glanzmann’s thrombasthenia: a report on two families M. KANNAN Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author B. K. YADAV Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. AHMAD Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. SAXENA Department of Hematology, All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author

      PMID: 19170775

      Gene: ITGA2B

      HGNC: 6138

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

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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/j.1751-553X.2008.01126.x
  110. Local file Local file
    DDAVP-induced enhancement of platelet retention: Its dependence on platelet-von Willebrand Factor and the platelet receptor GP IIb/IIIa
    1
    1. ClingenBaseline 26 Oct 2026
      DDAVP-induced enhancement of platelet retention: Its dependence on platelet-von Willebrand Factor and the platelet receptor GP IIb/IIIa

      PMID: 1499698

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient (29 years old); however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence. The aim of the present study was to investigate the mechanism by which DDAVP induces increased platelet adhesiveness, as measured in a platelet retention test.

      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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  111. watermark.silverchair.com watermark.silverchair.com
    75.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      Plat el et Vitro nec t in Receptor Exp res s ion Differentiates Iraqi - Jewi s h From Arab Patients With Glanzmann Thrombasthenia in Israel

      PMID: 1949709

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article examined platelets of the Iraqi-Jewish and Arab Glanzmann thrombasthenia population; however, no specific proband information or variants in ITGA2B and/or ITGB3 were mentioned. This could be classified as "NoEvidence"; however, due to the fact the article mentioned two specific populations, I have noted it under "InsufficientEvidence"

      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/75.pdf
  112. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3549378/
  113. Local file Local file
    Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran
    1
    1. ClingenBaseline 26 Oct 2026
      Presentation and Pattern of Symptoms in 382 PatientsWith Glanzmann Thrombasthenia in Iran

      PMID: 15389911

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article looks at the presentation and pattern of symptoms in 382 patients with GT. There are no variants associated with probands in ITGA2B and/or ITBG3

      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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  114. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Use of rFVIIa in 4 children with Glanzmann thrombasthenia. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/17023825
  115. www.jstage.jst.go.jp www.jstage.jst.go.jp
    en
    1
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    URL

    jstage.jst.go.jp/article/nmc/50/10/50_10_928/_pdf/-char/en
  116. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3179361/
  117. Local file Local file
    Acquired thrombasthenia due to GPIIbIIIa platelet autoantibodies in a 4-yr-old child
    1

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  118. Local file Local file
    Periodontal Management of Glanzmann's Thrombasthenia: Report of 3 CasesPeriodontal Management of Glanzmann's Thrombasthenia: Report of 3 Cases
    1
    1. ClingenBaseline 26 Oct 2026
      PeriodontalManagementofGlanzmann'sThrombasthenia:Reportof3Cases

      PMID: 8866321

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This mentions 3 Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in these individuals; 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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  119. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Glanzmann’s mutation in β3 integrin specifically impairs osteoclast function
    1
    1. ClingenBaseline 26 Oct 2026
      A Glanzmann’s mutation in β3 integrin specifically impairs osteoclast function

      PMID: 11342577

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, there is no mention of individual(s) with GT 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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    ncbi.nlm.nih.gov/pmc/articles/PMC209281/
  120. reader.elsevier.com reader.elsevier.com
    Hematologically Important Mutations: Glanzmann Thrombasthenia
    1
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    reader.elsevier.com/reader/sd/pii/S1079979697901170
  121. Local file Local file
    untitled
    1

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  122. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3122970/
  123. europepmc.org europepmc.org
    Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia
    1
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    europepmc.org/article/MED/21113249
  124. link.springer.com link.springer.com
    Untitled document
    1
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    link.springer.com/content/pdf/10.1007/s12185-010-0731-5.pdf
  125. Local file Local file
    Untitled document
    1
    1. ClingenBaseline 26 Oct 2026
      The Level of Laboratory Testing Requiredfor Diagnosis or Exclusion of a PlateletFunction Disorder Using Platelet Aggregationand Secretion Assays

      PMID: 19408197

      Gene: ITGA2B and/or ITGB3

      HGNC: 6138 and 6156

      NoEvidence: This article provides background information on Glanzmann thrombasthenia; however, does not mention probands or variants in ITGA2B and ITGB3

      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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  126. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Thrombin generation assays: accruing clinical relevance. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/15257016
  127. Local file Local file
    Dental Considerations for a Glanzmann's Thrombasthenia Patient: Case ReportDental Considerations for a Glanzmann's Thrombasthenia Patient: Case Report
    1
    1. ClingenBaseline 26 Oct 2026
      DentalConsiderationsforaGlanzmann'sThrombastheniaPatient:CaseReport

      PMID: 8724714

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

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  128. pdfs.semanticscholar.org pdfs.semanticscholar.org
    35f255229bd5960aa52baf2048a5c1996940.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      Platelet Fibrinogen and Vitronectin in Glanzmann Thrombasthenia: Evidence Consistent With Specific Roles for Glycoprotein IIb/IIIa and a,P3 Integrins in Platelet Protein Trafficking

      PMID: 1726706

      Gene: ITGA2B and 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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    pdfs.semanticscholar.org/d277/35f255229bd5960aa52baf2048a5c1996940.pdf
  129. Local file Local file
    Nurden_et_al-2002-British_Journal_of_Haematology.pdf
    1

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  130. www.tandfonline.com www.tandfonline.com
    ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia
    1
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    URL

    tandfonline.com/doi/pdf/10.1080/09537104.2017.1371291
  131. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Congenital disorders associated with platelet dysfunctions. - PubMed - NCBI
    1
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    ncbi.nlm.nih.gov/pubmed/18278172
  132. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Hematuria: An uncommon presentation of Glanzmann's thrombasthenia—Lessons learnt
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC2878421/
  133. www.jbc.org.libproxy.lib.unc.edu www.jbc.org.libproxy.lib.unc.edu
    J. Biol. Chem.-1993-Gemmell-14586-9.pdf
    1
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    jbc.org.libproxy.lib.unc.edu/content/268/20/14586.full.pdf
  134. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6375963/
  135. Local file Local file
    First description of an IgM monoclonal antibody causing αIIbβ3 integrin activation and acquired Glanzmann thrombasthenia associated with macrothrombocytopenia
    1
    1. ClingenBaseline 26 Oct 2026
      First description of an IgM monoclonal antibody causingaIIbb3integrin activation and acquired Glanzmannthrombasthenia associated with macrothrombocytopenia

      PMID: 30868743

      Gene: ITGA2B and ITGB3

      HGNC: 6138 and 6156, respectively as shown above

      InsufficientEvidence: Article discusses case report; however, no variants were reported in either ITGA2B or ITGB3 among sequencing analysis for proband.

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

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  136. watermark.silverchair.com watermark.silverchair.com
    977.pdf
    1
    1. ClingenBaseline 26 Oct 2026
      The Molecular Genetic Basis of Glanzmann’s Thrombasthenia in a Gypsy Population in France: Identification of a New Mutation on the &IIb Gene

      PMID: 7620188

      Gene: ITGA2B

      HGNC: 6138

      Note: Article mentions, under materials and methods, that the group being studied are two different families (I and II) belonging to the French gypsy community; however, in the results section the article focuses on patient V.17 from Family 1- therefore patient V.17 is annotated as the proband in this article

      ClinGen General ITGA2B HGNC:6138 inferred_gene_hgnc:6138 inferred_gene_source:hgnc_tag ClinGen ITGA2B/ITGB3
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    watermark.silverchair.com/977.pdf
  137. www.sciencedirect.com www.sciencedirect.com
    A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures
    1
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    sciencedirect.com/science/article/pii/S107997961830247X
  138. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity
    1
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2011.02700.x
  139. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain
    1
    1. ClingenBaseline 25 Oct 2026
      Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954 → Leu substitution in the factor VIII A3 domain D. M. Keeling, Oxford Haemophilia Centre, The Churchill Hospital, Oxford,Search for more papers by this authorK. Sukhu, Oxford Haemophilia Centre, The Churchill Hospital, Oxford,Search for more papers by this authorG. Kemball-Cook, Haemostasis Research Group, MRC Clinical Sciences Centre, Hammersmith Hospital, London,Search for more papers by this authorN. Waseem, Division of Medical and Molecular Genetics, Guy's and St Thomas's Medical School, London, U.K.,Search for more papers by this authorR. Bagnall, Division of Medical and Molecular Genetics, Guy's and St Thomas's Medical School, London, U.K.,Search for more papers by this authorJ. V. Lloyd, Haematology Division, Institute of Medical and Veterinary Science, Adelaide, AustraliaSearch for more papers by this author

      PMID: 10554831

      Gene: F8

      HGNCID: 3546

      General Gene:F8 HGNC:3546 inferred_gene_hgnc:3546 inferred_gene_source:hgnc_tag ClinGen Coag Fac Def VCEP
    Visit annotations in context

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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1999.01460.x
  140. iopscience.iop.org iopscience.iop.org
    Fluorinated low-viscosity copolymer with enhanced release property for roll-to-plate UV nanoimprint lithography
    1
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    iopscience.iop.org/article/10.1088/1361-6528/ab40e9
  141. illiad.lib.unc.edu illiad.lib.unc.edu
    3072516.pdf
    1
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    illiad.lib.unc.edu/NOH/illiad.dll
  142. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6610636/
  143. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Direct comparison of two extended-half-life recombinant FVIII products: a randomized, crossover pharmacokinetic study in patients with severe hemophilia A
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6700041/
  144. illiad.lib.unc.edu illiad.lib.unc.edu
    BA002923 824..834
    1
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    illiad.lib.unc.edu/NOH/illiad.dll
  145. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/pdf/10.1111/hae.12534
  146. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Assessment of the F9 genotype-specific FIX inhibitor risks and characterization of 10 novel severe F9 defects in the first molecular series of Argentine patients with haemophilia B
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC4220540/
  147. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Consequences of factor IX mutations in 26 families with haemophilia B
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1046/j.1365-2141.1998.00512.x
  148. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Analysis of the N-glycans of recombinant human Factor IX purified from transgenic pig milk
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3306160/
  149. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa
    1
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    pubmed.ncbi.nlm.nih.gov/8295821/
  150. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements
    1
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    pubmed.ncbi.nlm.nih.gov/1680287/
  151. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Enhanced potency of recombinant factor VIIa with increased affinity to activated platelets
    1
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    onlinelibrary.wiley.com/doi/abs/10.1111/jth.14644
  152. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Preclinical Development of a Hematopoietic Stem and Progenitor Cell Bioengineered Factor VIII Lentiviral Vector Gene Therapy for Hemophilia A
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6196756/
  153. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    FIX mutation spectrum in haemophilia B patients from Jordan: identification of three novel mutations
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1365-2516.2010.02365.x
  154. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity
    1
    1. ClingenBaseline 25 Oct 2026
      Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity V. Nummi, V. Nummi orcid.org/0000-0002-5134-7288 Faculty of Medicine, University of Helsinki, Helsinki, Finland Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, Helsinki, FinlandSearch for more papers by this authorA. Jouppila, A. Jouppila Helsinki University Hospital Research Institute, Helsinki, FinlandSearch for more papers by this authorR. Lassila, Corresponding Author R. Lassila riitta.lassila@hus.fi Faculty of Medicine, University of Helsinki, Helsinki, Finland Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, Helsinki, Finland Correspondence: Riitta Lassila, Coagulation Disorders Unit, Department of Hematology and Comprehensive Cancer Center, Laboratory Services, Helsinki University Hospital, P.O. Box 372, 00029 HUS, Helsinki, Finland. Tel.: +358 40 517 5547; Fax: +358 9 471 74504; E-mail: riitta.lassila@hus.fiSearch for more papers by this author

      PMID: 28406575

      Gene: F9

      HGNC: 3551

      General Gene:F9 inferred_gene_hgnc:3551 inferred_gene_source:Gene_Name ClinGen Coag Fac Def VCEP
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/ijlh.12634
  155. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical Problem Solving and Using New Paths in the Laboratory: Learning from Case Studies
    1
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    pubmed.ncbi.nlm.nih.gov/32820490/
  156. www.proquest.com www.proquest.com
    Factor IX mutations in Haemophilia B patients in Malaysia: a preliminary study - ProQuest
    1
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    proquest.com/docview/1030094611
  157. europepmc.org europepmc.org
    Glucose hypometabolism in the visual cortex proportional to disease severity in patients with essential blepharospasm.
    1
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    europepmc.org/articles/PMC6728873/
  158. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    blt-16-392.pdf
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC6034774/
  159. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Characterization of genetic defects of hemophilia B of Chinese origin
    1
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    pubmed.ncbi.nlm.nih.gov/1796396/
  160. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC5965921/
  161. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The CDC Hemophilia B mutation project mutation list: a new online resource
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3865591/
  162. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutation detection and inhibitor risk in Iranian patients with Hemophilia A: Six novel mutations
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC7752620/
  163. pdf.sciencedirectassets.com pdf.sciencedirectassets.com
    Usual and unusual mutations in a cohort of Belgian patients with hemophilia B
    1
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    pdf.sciencedirectassets.com/271043/1-s2.0-S0049384816X00163/1-s2.0-S0049384816306181/main.pdf
  164. journals.sagepub.com journals.sagepub.com
    Predictive Value of Slow and Fast EEG Oscillations for Methylphenidate Response in ADHD - Emel Sari Gokten, Emine Elif Tulay, Birsu Beser, Mine Elagoz Yuksel, Kemal Arikan, Nevzat Tarhan, Baris Metin, 2019
    1
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    journals.sagepub.com/doi/full/10.1177/1550059419863206
  165. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in British families with X linked congenital stationary night blindness
    1
    1. ClingenBaseline 25 Oct 2026
      Genotype-phenotype correlation in British families with X linked congenital stationary night blindness

      PMID: 14609846

      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
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1771890/
  166. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus
    1
    1. ClingenBaseline 25 Oct 2026
      A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus

      PMID: 19390656

      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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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC2671585/
  167. iovs.arvojournals.org iovs.arvojournals.org
    Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1
    1
    1. ClingenBaseline 25 Oct 2026
      Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1

      PMID: 26114493

      Gene: OPN1LW

      HGNC: 9936

      Disease: protan color blindness

      MONDO: 0010565

      InheritancePattern: X-linked

      Prevalence: The overall prevalence of protan color blindness is approximately 1% in males, which is higher than that of blue cone monochromacy (~1 in 100,000, PMID: 35759666).

      Penetrance: Known disease-causing alleles appear to be almost completely penetrant in males (PMID: 21167193).

      General ClinGen Gene:OPN1LW HGNC:9936 inferred_gene_hgnc:9936 inferred_gene_source:hgnc_tag Retina GCEP
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    iovs.arvojournals.org/article.aspx
  168. iovs.arvojournals.org iovs.arvojournals.org
    Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families
    1
    1. ClingenBaseline 25 Oct 2026
      Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families

      PMID: 15914600

      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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    iovs.arvojournals.org/article.aspx
  169. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Heterozygous 'null allele' mutation in the human peripherin/RDS gene
    1
    1. ClingenBaseline 25 Oct 2026
      Heterozygous 'null allele' mutation in the human peripherin/RDS gene

      PMID: 8111389

      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/8111389/
  170. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons
    1
    1. ClingenBaseline 25 Oct 2026
      Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons

      PMID: 35138024

      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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    URL

    pubmed.ncbi.nlm.nih.gov/35138024/
  171. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
    1
    1. ClingenBaseline 25 Oct 2026
      Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions

      PMID: 28644393

      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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    ncbi.nlm.nih.gov/pmc/articles/PMC5541303/
  172. www.cell.com www.cell.com
    Molecular cloning of a retina-specific membrane guanylyl cyclase
    1
    1. ClingenBaseline 25 Oct 2026
      Molecular cloning of a retina-specific membrane guanylyl cyclase

      PMID: 1356371

      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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    cell.com/neuron/pdf/0896-6273(92)90035-C.pdf
  173. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa
    1
    1. ClingenBaseline 25 Oct 2026
      Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

      PMID: 24959063

      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/24959063/
  174. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
    1
    1. ClingenBaseline 25 Oct 2026
      Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

      PMID: 27032803

      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/PMC4817143/
  175. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy
    1
    1. ClingenBaseline 25 Oct 2026
      Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy

      PMID: 25766589

      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/25766589/
  176. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease
    1
    1. ClingenBaseline 25 Oct 2026
      Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease

      PMID: 30640974

      Gene: CTNNB1

      HGNC: 2514

      Disease: severe intellectual disability-progressive spastic diplegia syndrome

      MONDO: 0014035

      InheritancePattern: autosomal dominant

      Prevalence: The incidence is unknown but estimated to be between 1 in 30,000 and 1 in 40,000 births (PMID: 32168371).

      Penetrance: The penetrance of the cognitive impairment phenotype among cases appears to be near-complete, while the exudative vitreoretinopathy phenotype reportedly has a prevalence of ~39% among affected individuals with a syndromic diagnosis.

      General ClinGen Gene:CTNNB1 HGNC:2514 inferred_gene_hgnc:2514 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/30640974/
  177. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
    1
    1. ClingenBaseline 25 Oct 2026
      A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

      PMID: 17574030

      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/17574030/
  178. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
    1
    1. ClingenBaseline 25 Oct 2026
      Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

      PMID: 34800980

      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/PMC8605601/
  179. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene
    1
    1. ClingenBaseline 25 Oct 2026
      New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene

      PMID: 18849587

      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/PMC2644649/
  180. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients
    1
    1. ClingenBaseline 25 Oct 2026
      Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients

      PMID: 25711638

      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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    ncbi.nlm.nih.gov/pmc/articles/PMC4365990/
  181. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder
    1
    1. ClingenBaseline 25 Oct 2026
      Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder

      PMID: 38206458

      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/38206458/
  182. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein
    1
    1. ClingenBaseline 25 Oct 2026
      The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein

      PMID: 1986774

      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/1986774/
  183. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Retinal Structure and Function in Achromatopsia: Implications for Gene Therapy
    1
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    ncbi.nlm.nih.gov/pmc/articles/PMC3895408/
  184. academic.oup.com academic.oup.com
    Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks
    1
    1. ClingenBaseline 25 Oct 2026
      Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks

      PMID: 30239781

      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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    academic.oup.com/hmg/article/27/19/3325/5042913
  185. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
    1
    1. ClingenBaseline 25 Oct 2026
      Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

      PMID: 23105016

      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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    ncbi.nlm.nih.gov/pmc/articles/PMC3561865/
  186. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
    1
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    pubmed.ncbi.nlm.nih.gov/32737437/
  187. academic.oup.com academic.oup.com
    Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
    1
    1. ClingenBaseline 25 Oct 2026
      Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

      PMID: 11971870

      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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    academic.oup.com/hmg/article/11/8/885/638537
  188. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced retinitis pigmentosa
    1
    1. ClingenBaseline 25 Oct 2026
      Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced retinitis pigmentosa

      PMID: 36206764

      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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    pubmed.ncbi.nlm.nih.gov/36206764/
  189. academic.oup.com academic.oup.com
    Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy
    1
    1. ClingenBaseline 25 Oct 2026
      Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy

      PMID: 11115851

      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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    academic.oup.com/hmg/article-abstract/9/20/3065/2901362
  190. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Visual and ocular findings in a family with X-linked cone dysfunction and protanopia
    1
    1. ClingenBaseline 25 Oct 2026
      Visual and ocular findings in a family with X-linked cone dysfunction and protanopia

      PMID: 34287097

      Gene: OPN1LW

      HGNC: 9936

      Disease: red color blindness

      MONDO: MONDO:0010565

      InheritancePattern: X-linked

      Prevalence: Protanomaly and protanopia are common disorders with peak frequencies (among the males of certain populations) of 1.94% and 1.28%, respectively (PMID: 30258865).

      Penetrance: The penetrance of the phenotype among hemizygous cases appears to be complete or near-complete.

      General ClinGen Gene:OPN1LW HGNC:9936 inferred_gene_hgnc:9936 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/34287097/
  191. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa
    1
    1. ClingenBaseline 25 Oct 2026
      Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa

      PMID: 28549772

      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/PMC5542800/
  192. jmg.bmj.com jmg.bmj.com
    A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
    1
    1. ClingenBaseline 25 Oct 2026
      A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

      PMID: 12960219

      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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    jmg.bmj.com/content/40/9/709
  193. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    LRP5 variants may contribute to ADPKD
    1
    1. ClingenBaseline 25 Oct 2026
      LRP5 variants may contribute to ADPKD

      PMID: 25920554

      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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    ncbi.nlm.nih.gov/pmc/articles/PMC4717208/
  194. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms
    1
    1. ClingenBaseline 25 Oct 2026
      Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

      PMID: 29706353

      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/PMC5986969/
  195. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
    1
    1. ClingenBaseline 25 Oct 2026
      Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15

      PMID: 33805381

      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/PMC8066792/
  196. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells
    1
    1. ClingenBaseline 25 Oct 2026
      The mGluR6 ligand-binding domain, but not the C-terminal domain, is required for synaptic localization in retinal ON-bipolar cells

      PMID: 34793838

      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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    pubmed.ncbi.nlm.nih.gov/34793838/
  197. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella
    1
    1. ClingenBaseline 25 Oct 2026
      The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella

      PMID: 20038682

      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/PMC2806276/
  198. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
    1
    1. ClingenBaseline 25 Oct 2026
      In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

      PMID: 16632484

      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/PMC1592550/
  199. www.molvis.org www.molvis.org
    Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population
    1
    1. ClingenBaseline 25 Oct 2026
      Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

      PMID: 30996589

      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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    molvis.org/molvis/v25/204/
  200. www.jbc.org www.jbc.org
    Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors RPGR to the Connecting Cilium *
    1
    1. ClingenBaseline 25 Oct 2026
      Retinitis Pigmentosa GTPase Regulator (RPGR)-interacting Protein Is Stably Associated with the Photoreceptor Ciliary Axoneme and Anchors RPGR to the Connecting Cilium

      PMID: 11104772

      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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    jbc.org/article/S0021-9258(19)46091-2/fulltext
  201. www.sciencedirect.com www.sciencedirect.com
    Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency
    1
    1. ClingenBaseline 25 Oct 2026
      Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency

      PMID: 16814585

      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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    sciencedirect.com/science/article/pii/S109671920600165X