Toward Understanding the Antitumor Effects of Water-Soluble Fullerene Derivatives on Lung Cancer Cells: Apoptosis or Autophagy Pathways?
PMID: 31361134
Gene: F8
No Evidence: This article does not mention F8 or Hemophilia A.
1,647 Matching Annotations
- Oct 2026
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pubs.acs.org pubs.acs.org
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illiad.lib.unc.edu illiad.lib.unc.edu
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The molecular basis of hemophilia BEdyta Odnoczko , Daria Malarczyk , Agata Adamiec
PMID: No PMID (chrome-extension://bjfhmglciegochdpefhhlphglcehbmek/pdfjs/web/viewer.html?file=https%3A%2F%2Filliad.lib.unc.edu%2FNOH%2Filliad.dll%3FAction%3D10%26Form%3D75%26Value%3D3078221)
Gene: F9
HGNC: 3551
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B
PMID: 10739381
Gene: F9
HGNC: 3551
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www.sciencedirect.com www.sciencedirect.com
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Clinical assessment of cervical movement sense in those with neck pain compared to asymptomatic individuals
PMID: 31277033
Gene: F8
NoEvidence: This article does not discuss Hemophilia A, F8 or blood disorders.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A Mutation in the Propeptide of Factor IX Leads to WarfarinSensitivity by a Novel Mechanism
PMID: 8833911
Gene: F9
HGNC: 3551
-
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academic.oup.com academic.oup.com
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Advances and challenges for hemophilia gene therapy
PMID: 31332444
Gene: F8
InsufficientEvidence: Patients are mentioned; however, no mention of variants.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians
PMID: 8499919
Gene: F9
HGNC: 3551
-
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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FACTOR IX MUTATIONS: RAPID, DIRECT SCREENING METHODS FOR 20 NEWFAMILIESWITHHEMOPHILIAB
PMID: 1579901
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
PMID: 29296726
Gene: F9
HGNC: 3551
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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PMID: 8318985
Gene: F9
HGNC: 3551
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www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
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Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan
PMID: 33254277
Gene: F8
HGNCID: 3546
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile
PMID: 24317041
Gene: F8
HGNCID: 3546
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies
PMID: 28270892
Gene: F8, F9
HGNCID: 3546, 3551
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Usefulness of an in vitro cellular expression model for haemophilia A carrier diagnosis: illustration with five novel mutations in the F8 gene in women with isolated factor VIII:C deficiency
PMID: 25708597
Gene: F8
Disease: Hemophilia A
HGNC:3546
MONDO ID: MONDO:0010602
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Role of chromogenic assays in haemophilia A and B diagnosis
PMID: 29808946
Gene: F8
HGNC: 3546
NoEvidence: This article discusses the role of chromogenic assays in hemophilia A; no case reports in this article
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scielo.conicyt.cl scielo.conicyt.cl
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Importance of diagnostic guidance in acquired hemophilia A
PMID: 31344171
Gene: F8
No Evidence: No variants or probands mentioned in this review of Hemophilia A
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Missense mutations at ALA-10 in the factor IX propeptide:an insignificant variant in normal life but a decisive causeof bleeding during oral anticoagulant therapy
PMID: 9233593
Gene: F9
HGNC: 3551
-
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www.sciencedirect.com www.sciencedirect.com
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Extensive serum cytokine analysis in patients with prostate cancer
PMID: 31430659
Gene: F8
No Evidence: This article does not mention F8, rather it discusses cytokine analysis.
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-
pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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Defective Propeptide Processing of BloodClotting Factor IX Caused by Mutation ofArginine to Glutamine at Position -
PMID: 3009023
Gene: F9
HGNC: 3551
-
-
Local file Local file
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Enhanced potency of recombinant factor VIIa with increased
PMID: 31549480
Gene: F8
InsufficientEvidence: This article mentions variants and patient tissue being used separately; however, does not tie them in together, without a variant to tie the proband to, it’s insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A genetic analysis of 23 Chinese patients with hemophilia B
PMID: 27109384
Gene: F9
HGNCID: 3551
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Prediction of factor VIII inhibitor development in the SIPPET cohort by mutational analysis and factor VIII antigen measurement
PMID: 29399993
Gene: F8
HGNC: 3546
InsufficientEvidence: This article mentions variants however there are no specific case reports mentioned therefore, insufficient evidence
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations
PMID: 31264916
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.
-
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 (LRP5) Gene in Different Conditions with an Increased Bone Density
PMID: 12579474
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
The human U4/U6 snRNP contains 60 and 90kD proteins that are structurally homologous to the yeast splicing factors Prp4p and Prp3p
PMID: 9257651
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).
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
PMID: 28041643
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation
PMID: 30628748
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 87 with choroidal involvement
MONDO: 0032873
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.
Penetrance: Incomplete penetrance, estimated at 80%
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
PMID: 11092754
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.
-
-
academic.oup.com academic.oup.com
-
A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging
PMID: 15459177
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
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision
PMID: 32265257
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.
-
-
www.jbc.org www.jbc.org
-
A Novel Tissue Inhibitor of Metalloproteinases-3 Mutation Reveals a Common Molecular Phenotype in Sorsby's Fundus Dystrophy
PMID: 10854443
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder
PMID: 19074807
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.
-
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Expression and characterization of the IPM 150 gene (IMPG1) product, a novel human photoreceptor cell-associated chondroitin-sulfate proteoglycan
PMID: 10601738
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
www.sciencedirect.com www.sciencedirect.com
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ON pathway mutations increase susceptibility to form-deprivation myopia
PMID: 26072023
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.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Gene Therapy in Opn1mw−/−/Opn1sw−/− Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations
PMID: 35272502
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).
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations
PMID: 25475713
Gene: KCNJ13
HGNC: 6259
Disease: Leber congenital amaurosis 16
MONDO: 0013613
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns (PMID: 10951519), while the proportion of Leber congenital amaurosis caused by KCNJ13 variants is unknown.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function
PMID: 15452577
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2
PMID: 12567324
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Osteoporosis Pseudoglioma Syndrome
PMID: 33531964
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
PMID: 12515581
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis
PMID: 9888420
Gene: RBP4
HGNC: 9922
Disease: progressive retinal dystrophy due to retinol transport defect
MONDO: 0014060
InheritancePattern: autosomal recessive
Prevalence: RBP4-related cases have an estimated prevalence of less than 1 in 1,000,000 (https://www.orpha.net/en/disease/detail/352718?search=&mode=name)
Penetrance: RBP4 disease-causing variants appear to have complete penetrance in biallelic cases.
-
-
iovs.arvojournals.org iovs.arvojournals.org
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Abnormal Vessel Formation in the Choroid of Mice Lacking Tissue Inhibitor of Metalloprotease-3
PMID: 18408187
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
-
CSNB1 in Chinese families associated with novel mutations in NYX
PMID: 16670814
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa
PMID: 29947567
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 87 with choroidal involvement
MONDO: 0032873
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.
Penetrance: Incomplete penetrance, estimated at 80%
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Functional photoreceptor loss revealed with adaptive optics: An alternate cause of color blindness
PMID: 15148406
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).
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Deletion in the OA1 gene in a family with congenital X linked nystagmus
PMID: 11520764
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Interphotoreceptor matrix proteoglycans IMPG1 and IMPG2 proteolyze in the SEA domain and reveal localization mutual dependency
PMID: 36109576
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Deletion of the Impg2 gene causes the degeneration of rod and cone cells in mice
PMID: 32242237
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened
PMID: 22072986
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.
-
-
iovs.arvojournals.org iovs.arvojournals.org
-
CORD9 a New Locus for arCRD: Mapping to 8p11, Estimation of Frequency, Evaluation of a Candidate Gene
PMID: 11581183
Gene: ADAM9
HGNC: 216
Disease: cone-rod dystrophy 9
MONDO: MONDO:0013002
InheritancePattern: autosomal recessive
Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.
Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping
PMID: 19797195
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.
-
-
www.sciencedirect.com www.sciencedirect.com
-
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
PMID: 26216056
Gene: IFT140
HGNC: 29077
Disease: polycystic kidney disease
MONDO: 0020642
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of polycystic kidney disease is between 1 in 400 and 1 in 1,000 individuals (PMID: 30523303).
Penetrance: Disease caused by monoallelic IFT140 variants is incompletely penetrant.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset
PMID: 15728307
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
-
-
journals.plos.org journals.plos.org
-
Pineal Photoreceptor Cells Are Required for Maintainingthe Circadian Rhythms of Behavioral Visual Sensitivity inZebrafish
PMID: 22815753
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
-
-
iovs.arvojournals.org iovs.arvojournals.org
-
RPGR Isoforms in Photoreceptor Connecting Cilia and the Transitional Zone of Motile Cilia
PMID: 12766038
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
PMID: 1684223
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).
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
PMID: 41513982
Gene: RNU4-2
HGNC: 10193
Disease: inherited retinal dystrophy
MONDO: 0019118
InheritancePattern: autosomal dominant
Prevalence: The prevelance of retinitis pigmentosa in general is between 1 in 750 and 1 in 9,000 individuals (PMID: 37108642). The proportion of those cases caused by RNU4-2 variants is not well known.
Penetrance: Penetrance appears to be incomplete, with family pedigrees including apparently unaffected carriers.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3)
PMID: 10725384
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.
-
-
academic.oup.com academic.oup.com
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Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells
PMID: 16223891
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
PMID: 28644393
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The 21-kDa protein is a transformation-sensitive metalloproteinase inhibitor of chicken fibroblasts
PMID: 1845973
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
www.nature.com www.nature.com
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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
PMID: 11062471
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa
PMID: 23372056
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Tissue inhibitor of metalloproteinases-3 is a component of Bruch's membrane of the eye.
PMID: 9006347
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
pubs.acs.org pubs.acs.org
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Factors that Determine Ca2+ Sensitivity of Photoreceptor Guanylyl Cyclase. Kinetic Analysis of the Interaction between the Ca2+-Bound and the Ca2+-Free Guanylyl Cyclase Activating Proteins (GCAPs) and Recombinant Photoreceptor Guanylyl Cyclase 1 (RetGC-1)
PMID: 15504042
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.
-
-
academic.oup.com academic.oup.com
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Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65
PMID: 29659842
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 87 with choroidal involvement
MONDO: 0032873
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.
Penetrance: Incomplete penetrance, estimated at 80%
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?
PMID: 10676808
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
PMID: 15231740
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health
PMID: 25277229
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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prpf4 is essential for cell survival and posterior lateral line primordium migration in zebrafish
PMID: 30174136
-
-
www.jneurosci.org www.jneurosci.org
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GUCY2D Cone–Rod Dystrophy-6 Is a “Phototransduction Disease” Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1
PMID: 29440533
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Whole exome sequencing identifies a novel splice-site mutation in IMPG2 gene causing Stargardt-like juvenile macular dystrophy in a north Indian family
PMID: 34990796
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families
PMID: 26321862
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.
-
-
www.nature.com www.nature.com
-
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
PMID: 21654732
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 87 with choroidal involvement
MONDO: 0032873
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.
Penetrance: Incomplete penetrance, estimated at 80%
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog
PMID: 10393029
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Functional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis
PMID: 28207750
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.
-
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates
PMID: 32783370
Gene: KCNJ13
HGNC: 6259
Disease: Leber congenital amaurosis 16
MONDO: 0013613
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns (PMID: 10951519), while the proportion of Leber congenital amaurosis caused by KCNJ13 variants is unknown.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
PMID: 33169370
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
PMID: 33546218
Gene: PROM1
HGNC: 9454
Disease: retinitis pigmentosa 41
MONDO: 0012796
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). The proportion of that incidence made up by the specific form caused by biallelic variants in PROM1 is not clear.
Penetrance: Known disease-causing alleles appear to be completely penetrant in the homozygous state, and for at least some heterozygous variants associated with other disease entities.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology
PMID: 23328348
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy
PMID: 30588538
Gene: PROM1
HGNC: 9454
Disease: retinitis pigmentosa 41
MONDO: 0012796
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). The proportion of that incidence made up by the specific form caused by biallelic variants in PROM1 is not clear.
Penetrance: Known disease-causing alleles appear to be completely penetrant in the homozygous state, and for at least some heterozygous variants associated with other disease entities.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
PMID: 19887631
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
-
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity
PMID: 16754667
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 20
MONDO: 0013425
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of recessive Retinitis pigmentosa caused by RPE65 variants is ~2%. (PMID: 9501220) Thus, the prevalence of Retinitis pigmentosa 20 is between 1 in 150,000 and 1 in 200,000.
Penetrance: Fully penetrant, with onset typically in childhood
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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ADAM9 Is Involved in Pathological Retinal Neovascularization
PMID: 19273593
Gene: ADAM9
HGNC: 216
Disease: cone-rod dystrophy 9
MONDO: MONDO:0013002
InheritancePattern: autosomal recessive
Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.
Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.
-
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Exome Sequencing of 47 Chinese Families with Cone-Rod Dystrophy: Mutations in 25 Known Causative Genes
PMID: 23776498
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A common NYX mutation in Flemish patients with X linked CSNB
PMID: 18617546
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.
-
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix
PMID: 11827795
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
PMID: 33910932
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families
PMID: 17110911
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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PRPF4 mutations cause autosomal dominant retinitis pigmentosa
PMID: 24419317
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).
-
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy
PMID: 30718709
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature
PMID: 32039639
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.
-
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iovs.arvojournals.org iovs.arvojournals.org
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RPE65 Is Essential for the Function of Cone Photoreceptors in NRL-Deficient Mice
PMID: 17251447
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
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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UNUSUAL EARLY-ONSET VITELLIFORM DYSTROPHY POSSIBLY LINKED TO THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 P.LEU154PRO MUTATION
PMID: 30688845
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
-
-
www.nature.com www.nature.com
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Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
PMID: 7894485
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)
PMID: 12524598
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome
PMID: 16252235
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.
-
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR
PMID: 28575650
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.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
PMID: 8728699
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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-
journals.plos.org journals.plos.org
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Tissue Inhibitor of Metalloproteinases-3 Peptides Inhibit Angiogenesis and Choroidal Neovascularization in Mice
PMID: 23469166
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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A Novel TIMP3 Mutation Associated With Sorsby Fundus Dystrophy
PMID: 15824229
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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S-opsin knockout mice with the endogenous M opsin gene replaced by an L opsin variant
PMID: 24801621
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).
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link.springer.com link.springer.com
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In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant
PMID: 27718025
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients
PMID: 34985506
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.
-
-
www.sciencedirect.com www.sciencedirect.com
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The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial
PMID: 10396622
Gene: ABCA4
HGNC: 34
Disease: age related macular degeneration 2
MONDO: 0007932
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of age-related macular degeneration is estimated to be 9.9-19.5% (early-stage) or 1.1-3.9% (late-stage) among all people over age 50 years (PMID: 31712255).
Penetrance: The penetrance of proposed disease-causing alleles is not clear but is expected to be incomplete and age-dependent.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Optimization of Retinal Gene Therapy for X-Linked Retinitis Pigmentosa Due to RPGR Mutations
PMID: 28566226
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
9614228
PMID: 9614228
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing
PMID: 37091798
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
PMID: 27238910
Gene: IDUA
Disease: MPS1
Inheritance: Autosomal recessive
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Whole blood ristocetin-activated platelet impedance aggregometry (Multiplate) for the rapid detection of Von Willebrand disease
PMID: 28692107
Gene: VWF
HGNCID: 12726
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
von Willebrand Factor (VWF) Inhibitors in Two Brothers with von Willebrand Disease: A Case Report
PMID: 40673043
Gene: VWF
HGNCID: HGNC:12726
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Role of red blood cells in the anemia‐associated bleeding under high shear conditions
PMID: 28470853
Gene: VWF
HGNCID: 12726
-
-
www.sciencedirect.com www.sciencedirect.com
-
Revascularization Operation for Moyamoya Disease with Concurrent von Willebrand Disease
PMID: 28866059
Gene: VWF
HGNCID: 12726
-
-
ashpublications.org ashpublications.org
-
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project
PMID: 23690449
Gene: VWF
HGNC: 12726
Disease: von Willebrand Disease Type 2N
MONDO: 0015631
InheritancePattern: Autosomal Recessive
Prevalence: Various sources (PMID: 28847738, PMID:19809303, PMID:29115006) can be combined to estimate the prevalence of VWD Type 2N between 1:15,000 and 1:80,000.
Penetrance: VWD type 2 is fully penetrant / nearly fully penetrant for most pathogenic variants.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Prevalence and Risk Factors Associated With Hypertension in von Willebrand Disease
PMID: 27655998
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Blood volume–based von Willebrand factor to prevent postpartum hemorrhage in von Willebrand disease
PMID: 29296713
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Management of pregnancy in type 3 von Willebrand disease with alloantibodies
PMID: 28699647
Gene: VWF
HGNCID: 12726
-
-
www.sciencedirect.com www.sciencedirect.com
-
Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations
PMID: 17681836
Gene: VWF
HGNCID: 12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Gene of the issue: GP1BA gene mutations associated with bleeding
PMID: 28961024
Gene: GP1BA
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor
PMID: 28692141
Gene: VWF
HGNCID: 12726
-
-
web.b.ebscohost.com.libproxy.lib.unc.edu web.b.ebscohost.com.libproxy.lib.unc.edu
-
Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.
PMID: 28436749
Gene: VWF
HGNCID: 12726
-
-
www.cell.com www.cell.com
-
Misfolding of vWF to Pathologically Disordered Conformations Impacts the Severity of von Willebrand Disease
PMID: 25185554
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2M
MONDO: 0015630
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral (PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice
PMID: 28581694
Gene: VWF
HGCNID: 12726
-
-
avmajournals-avma-org.libproxy.lib.unc.edu avmajournals-avma-org.libproxy.lib.unc.edu
-
Outcome of laparoscopic ovariohysterectomy or ovariectomy in dogs with von Willebrand disease or factor VII deficiency: 20 cases (2012–2014)
PMID: 29035661
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Comment on: Generation and optimization of the self-administered pediatric bleeding questionnaire and its validation as a screening tool for von Willebrand disease
PMID: 28727265
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Two cases of von Willebrand disease type 3 in consanguineous Chinese families
PMID: 31793247
Gene: von Willebrand Factor (VWF)
-
-
www.frontiersin.org www.frontiersin.org
-
The Chaperonin GroEL: A Versatile Tool for Applied Biotechnology Platforms
PMID: 29868607
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2M
MONDO: 0015630
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral (PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
The co-influence of VWD type 2B/2M mutations in the A1 domain and platelet GPIbα on the rate of cleavage to VWF by ADAMTS13
PMID: 26345337
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1
PMID: 19506358
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease
PMID: 17155947
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Decreased severity of Shiga toxin-producing Escherichia coli haemolytic uraemic syndrome (STEC-HUS) in a child with type 1 von Willebrand disease
PMID: 28855217
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Laboratory monitoring of replacement therapy for major surgery in von Willebrand disease
PMID: 28111840
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients
PMID: 28971901
Gene: von Willebrand Disease (VWF)
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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An Arg545----Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease
PMID: 1761120
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
von Willebrand Disease: A Concise Review and Update for the Practicing Physician
PMID: 27920237
Gene: VWF
HGNCID: 12726
-
-
www.sciencedirect.com www.sciencedirect.com
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The Defective Interaction Between von Willebrand Factor and Factor VIII in a Patient With Type 1 von Willebrand Disease Is Caused by Substitution of Arg19 and His54 in Mature von Willebrand Factor
PMID: 8562925
Gene: VWF
HGNC: 12726
Disease: von Willebrand Disease Type 2N
MONDO: 0015631
InheritancePattern: Autosomal Recessive
Prevalence: Various sources (PMID: 28847738, PMID:19809303, PMID:29115006) can be combined to estimate the prevalence of VWD Type 2N between 1:15,000 and 1:80,000.
Penetrance: VWD type 2 is fully penetrant / nearly fully penetrant for most pathogenic variants.
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Outgrowing the laboratory diagnosis of type 1 von Willebrand disease: A two decade study Mouhamed Yazan Abou-Ismail, Corresponding Author Mouhamed Yazan Abou-Ismail yazan.abouismail@case.edu orcid.org/0000-0002-6682-4366 Department of Medicine, Rochester General Hospital, Rochester, New YorkCorrespondence M. Yazan Abou-Ismail, University Hospitals, Cleveland Medical Center, Division of Hematology & Oncology, 11100 Euclid Avenue, Cleveland, OH 44106, USA. Email: yazan.abouismail@case.eduSearch for more papers by this authorGbolahan O. Ogunbayo, Gbolahan O. Ogunbayo orcid.org/0000-0002-4140-8067 Department of Medicine, Rochester General Hospital, Rochester, New YorkSearch for more papers by this authorMichelle Secic, Michelle Secic Secic Statistical Consulting Inc, Chardon, OhioSearch for more papers by this authorPeter A. Kouides, Peter A. Kouides orcid.org/0000-0002-3857-8313 Department of Medicine, Rochester General Hospital, Rochester, New York Mary M. Gooley Hemophila Center, Rochester, New YorkSearch for more papers by this author
PMID: 29098718
Gene: VWF
HGNC: 12726 (type 1)
Note: This article is about how VWF levels change as VWD patients age.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Von Willebrand Disease type 2 in pregnancy - A critical clinical association
PMID: 28559097
Gene: VWF
HGNCID: 12726
-
-
www.sciencedirect.com www.sciencedirect.com
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Mechanical stretch via transforming growth factor-β1 activates microRNA-208a to regulate hypertrophy in cultured rat cardiac myocytes
PMID: 24120154
Gene: MYH7
HGNC: 7577
This study investigated whether miR208a is a critical regulator in cardiomyocyte hypertrophy under mechanical stretch.
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www.karger.com www.karger.com
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MicroRNA-22 Downregulation by Atorvastatin in a Mouse Model of Cardiac Hypertrophy: a new Mechanism for Antihypertrophic Intervention
PMID: 23860036
Gene: MYH7
HGNC: 7577
"This study demonstrates for the first time the modulation of miRNA-22 can be achieved by pharmacological intervention. The data generated from this study provides a rationale for the development of miRNA-based strategies for antihypertrophic treatment."
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Myopathies with finger flexor weakness: Not only inclusion-body myositis
PMID: 32478919
Gene: MYH7
HGNC: 7577
Unable to access full text
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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CTIP2 is a negative regulator of P-TEFb
PMID: 23852730
Gene: MYH7
HGNC: 7577
In hearts of hypertrophic cardiomyopathic mice, CTIP2 controls P-TEFb-sensitive pathways involved in the establishment of this pathology. Overexpression of the β-myosin heavy chain protein contributes to the pathological cardiac wall thickening. The inactive P-TEFb complex associates with CTIP2 at the MYH7 gene promoter to repress its activity. Taken together, our results strongly suggest that CTIP2 controls P-TEFb function in physiological and pathological conditions.
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academic.oup.com academic.oup.com
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Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy
PMID: 23674513
Gene: MYH7
HGNC: 7577
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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[Overlapping Phenotype: Left Ventricular non-Compaction and Hypertrophic Cardiomyopathy]
PMID: 32394868
Gene: MYH7
HGNC: 7577
-
-
www.sciencedirect.com www.sciencedirect.com
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LC MS/MS identification of large structural proteins from bull muscle and their degradation products during post mortem storage
PMID: 24360430
Gene: MYH7
HGNC: 7577
"we used liquid chromatography coupled to tandem mass spectrometry (LC–MS/MS) to identify all of the high molecular weight proteins and their degradation products during post mortem storage, in order to determine the changes of proteins in muscle during post mortem aging and its relationship with meat quality."
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Interpreting Secondary Cardiac Disease Variants in an Exome Cohort
PMID: 23861362
Gene: MYH7
HGNC: 7577
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Differential expression of Nad(P)H oxidase isoforms and the effects of atorvastatin on cardiac remodeling in two-kidney two-clip hypertensive rats
PMID: 23700792
Gene: MYH7
HGNC: 7577
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias☆
PMID:28491642
Gene:ACTC1
HGNC ID:143
-
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Hypertrophic cardiomyopathy MYH7 mutation R723G alters mRNA secondary structure
PMID: 31790337
Gene: MYH7
HGNC: 7577
Evidence: no proband info
"We suggest that a different mRNA lifetime of the alleles may cause the allelic drift in R723G patients."
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy
PMID: 32380161
Gene: MYH7
HGNC: 7577
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Mutation that causes hypertrophic cardiomyopathy increases force production in human β-cardiac myosin
PMID: 23852727
Gene: MYH7
HGNC: 7577
"So, how do we stop a genetic heartbreaker like R453C? The identification of a biochemical and biophysical phenotype is the first step. Now that we know that this mutation causes a subtle decrease in ATPase cycling and an increase in force production by changing the stiffness of the myosin motor domain, we can investigate how these changes affect heart function and development."
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation
PMID: 23956225
Gene: MYH7
HGNC: 7577
-
-
www.sciencedirect.com www.sciencedirect.com
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Generation of two clonal iPSC lines, ICGi019-A and ICGi019-B, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.M659I mutation in MYH7
PMID: 32422568
Gene: MYH7
HGNC: 7577
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
PMID: 37271167
Gene: MYBPC3
HGNC ID: 7551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Genotype-Related Clinical Characteristics and Myocardial Fibrosis and Their Association with Prognosis in Hypertrophic Cardiomyopathy
PMID: 32492895
Gene: MYH7
HGNC: 7577
"The objectives of this study were to assess the spectrum of genetic variants and genotype–phenotype relationships within a Korean HCM population. Methods: Eighty-nine consecutive unrelated HCM patients were included. All patients underwent genotypic analysis for 23 HCM-associated genes. Clinical parameters including echocardiographic and cardiac magnetic resonance (CMR) parameters were evaluated. A composite of major adverse cardiac and cerebrovascular events was assessed. Results: Genetic variants were detected in 55 of 89 subjects. Pathogenic variants or likely pathogenic variants were identified in 27 of HCM patients in MYBPC3, TNNI3, MYH7, and MYL7."
-
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Multiplex targeted high‐throughput sequencing for Mendelian cardiac disorders
PMID: 23590259
Gene: MYH7
HGNC: 7577
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Role of the cytoskeleton in muscle transcriptional responses to altered use
PMID: 23444318
Gene: MYH7
HGNC: 7577
-
-
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy
PMID: 24300783
Gene: MYH7
HGNC: 7577
-
-
www.sciencedirect.com www.sciencedirect.com
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Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy
PMID: 24093860
Gene: MYH7
HGNC: 7577
-
-
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Compensation of the AKT signaling by ERK signaling in transgenic mice hearts overexpressing TRIM72
PMID: 23567182
Gene: MYH7
HGNC: 7577
TRIM72 expression
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www.sciencedirect.com www.sciencedirect.com
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Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
PMID: 32361481
Gene: MYH7
HGNC: 7577
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
PMID: 23478172
Gene: MYH7
HGNC: 7577
-
-
www.nature.com www.nature.com
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Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
PMID: 24113344
Gene: MYH7
HGNC: 7577
This study sought to reassess single-nucleotide variant classification in hypertrophic cardiomyopathy probands. a total of 136 unrelated hypertrophic cardiomyopathy probands had genetic testing, of which 63 (46%) carried at least one pathogenic mutation. MYBPC3 (n = 34; 47%) and MYH7 (n = 23; 32%)
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www.sciencedirect.com www.sciencedirect.com
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Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation
PMID: 27692944
Gene: GAA
Disease: Glycogen Storage Disease II
MonDO: 0009290
InheritancePattern: autosomal recessive
NoEvidence: Case report of individual incorrectly diagnosed with Pompe carrying the NM_000152.4(GAA):c.-32-13T>G variant, he was eventually diagnosed correctly with PRKAG2 syndrome via a pathogenic variant.
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Pearls & Oy-sters: Clues to the diagnosis of adult-onset acid maltase deficiency
PMID: 24590251
Gene: GAA
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy
PMID: 30770309 Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
PMID: PMC7780922
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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watermark.silverchair.com watermark.silverchair.com
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Competition between normal [674C] and mutant [674R]GPIIb subunits: role ofthe molecular chaperone BiP in the processing of GPIIb-IIIa complexes
PMID: 11313253
Gene: ITGA2B
HGNC: 6138
PreviouslyPublished: PMID: 9920835
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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A novel Phe171Cys mutation in integrin αIIb causes Glanzmann thrombasthenia by abrogating αIIbβ3 complex formation
PMID: 15219201
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
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Ultrastructural analysis of the distribution of the vitronectinreceptor (avb3) in human platelets and megakaryocytes revealsan intracellular pool and labelling of thea-granule membrane
PMID: 9074427
Gene: ITGA2B
HGNC 6156
PreviouslyPublished:The proband in this article is from PMID: 2180491 and the variant this proband has is from PMID: Not available, (Bourre et al. 1990)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia
PMID: 30756012
Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these two genes may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented here; however, no mention of variants in ITGA2B or ITGB3.
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www.ahajournals.org www.ahajournals.org
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GT7
Case#: half a year old, male
Disease: Glazmann's Thrombasthenia
CasePresentingHPOs: HP:0000967, HP:0000978, HP:0002239
PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.
GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing
Allele 1:
ClinVar: 996164
CAID: CA400023596
Variant: NM_000212.3:c.724C>T
GnomAD: Highest in European (Non-Finnish) 0.00006483 (1/15426)
Allele 2
ClinVar: Not found
CAID: CA626684825
Variant: NM_000212.3:c.225_226del
GnomAD: East Asian highest at rate of 0.0001087 2/18394
ExpressionEvidence: Flow Cytometry of platelet integrin: .3% B3 expression, .6% A2B expression
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reader.elsevier.com reader.elsevier.com
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STUDIES OF THE PLATELET FIBRINOGEN RECEPTOR IN GLANZMANN PATIENTS AND UREMIC PATIENTS
PMID: 1412224
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions 2 Glanzmann thrombasthenia patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in the patients. The purpose of this study was to investigate fibrinogen binding to the platelet receptor in normal subjects, patients with GT, and carriers of this disorder, s well as in patients with chronic uremia before and after treatment with recombinant erythropoiten.
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journals.sagepub.com journals.sagepub.com
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Glanzmann’s Thrombasthenia: AnOverview
PMID: 18930954
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article summarizes Glanzmann thrombasthenia (GT); however, there is no mention of GT probands with variants in ITGA2B and/or ITGB3; therefore there is no evidence for our purpose
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Local file Local file
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Novel mutations of integrinaIIb andb3 genes in Turkish children withGlanzmann’s thrombasthenia
PMID: 25734216
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 20 GT patients and variants in ITGA2B and ITGB3, which these patients harbor. However, the variants are not specific to the patient, the article has just listed a table of the variants not identifying them with their respective patients
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Sustained engraftment post bone marrow transplant despite anti‐platelet antibodies in Glanzmann thrombasthenia Veronica H. Flood MD Corresponding Author E-mail address: floodv@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author F. Leonard Johnson MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Lynn K. Boshkov MD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Gregory A. Thomas MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Diane J. Nugent MD Division of Hematology, Children's Hospital of Orange County, Orange, CaliforniaSearch for more papers by this author Antony C. Bakke PhD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author H. Stacy Nicholson MD, MPH Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author David Tilford MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Mary P. Brown MD Central Oregon Pediatrics, Bend, OregonSearch for more papers by this author Kamar T. Godder MD, MPH Corresponding Author E-mail address: godderk@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author
PMID: 15768382
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 3 probands with Glanzmann thrombasthenia; however, there is no mention of these probands bearing variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence
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Local file Local file
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Demonstration of a marked reduction in the amount of GPIIb in most type I1 patients with Glanzmann’s thrombasthenia
PMID: 7947235
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article employees a sensitive immunoblot assay, where researchers characterized thrombasthenic platelets from 11 GT patients. There are no specific case reports of these patients, or mention of specific variants in ITGA2B/ITGB3 which these patients harbor, therefore there is insufficient evidence
PreviouslyPublished: Molecular defects in some of these patients has been demonstrated in these articles: Burk et al. 1991; Newman et al, 1991: Kato et al, 1992: Gu et al. 1993
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A Leu55to Pro substitution in the integrinaIIbis responsiblefor a case of Glanzmann’s thrombasthenia
PMID: 12181054
Gene: ITGA2B
HGNC: 6138
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Evaluation of rFVIIa (NovoSeven) in Glanzmann patients with thromboelastogram
PMID: 18070065
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Glanzmann thrombasthenia patients are mentioned in this article; however, variants in ITGA2B and/or ITGB3 are not mentioned in patients
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www.thieme-connect.com www.thieme-connect.com
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Immunisation against IIb3 and v3 in a type 1 variant of Glanzmann’s thrombasthenia caused by a missense mutation Gly540Asp on 3
PMID: 27098940
Gene: ITGB3
HGNC: 6156
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIbβ3 to an active state
PMID: 22136613
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, no individual probands are mentioned
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www.tandfonline.com www.tandfonline.com
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Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method
PMID: 21526886
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention individual probands with variants in ITGA2B and ITGB3; however, the article mentions a cohort of GT patients.
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clinchem.aaccjnls.org clinchem.aaccjnls.org
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A 3-Year-Old Girl with Frequent Nose Bleeds
PMID: 23624894
Gene: ITGA2B
HGNC: 6138
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Rapid Heterozygote Detection in Glanzmann's Thrombasthenia
PMID: 9576183
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
InsufficientEvidence: This article mentions several patients with GT; however, no variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Ser-752->Promutationinthecytoplasmicdomainofintegrin.83subunitanddefectiveactivationofplateletintegrinaIlbP3(glycoproteinlib-Illa)inavariantofGlanzmannthrombasthenia
PMID: 1438206
Gene: ITGB3
HGNC: 6156
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watermark.silverchair.com watermark.silverchair.com696.pdf1
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A Defect of Platelet Aggregation Associated With an Abnormal Distribution of Glycoprotein IIb-IIIa Complexes Within the Platelet: The Cause of a Lifelong Bleeding Disorder
PMID: 1638023
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
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Use of autologous platelet‐rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders
PMID: 21323803
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a 60 year old Glanzmann thrombasthenia proband with missense mutations in ITGA2B; however, article does not have data for what mutations the proband has
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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GT1
Disease: Glazmann's Thrombasthenia
Case: 11 year old female French Gypsy
CasePresentingHPOs: HP:0001975
(Decreased platelet glycoprotein IIb-IIIa)
GenotypingMethod:Genotyping analysis of the HPA-1 system by high resolution melting analysis (methods not provided, cited article I don't have access too)
ClinVar: 2895
CAID: CA10575473
Variant: NM_000419.5:c.1544+1G>A
GnomAD: Not found
ExpressionEvidence: Failed to express αIIbβ3 integrin on their platelet surface (methods not provided cited article no access too)
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Occurrence of thrombosis in congenital thrombocytopenic disorders: a critical annotation of the literature.
PMID: 23037321
Gene: ITGB3
HGNC: 6156
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www.tandfonline.com www.tandfonline.com
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Platelet function tests using plateletaggregometry: need for repetition of the test fordiagnosis of defective platelet function
PMID: 14602548
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is mentions a cohort of 497 patients referred to their laboratory from all over Mumbai for investigation of spontaneous mucocutaneous bleeding. 61 of these patnets had Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in these patients therefore there is insufficient evidence
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reader.elsevier.com reader.elsevier.com
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Characterization of a new hereditary thrombopathy in a closed colony of Wistar rats
PMID: 8960644
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. This study identifies and partially characterizes an inherited thrombopathy in a closed colony of Wistar rats.
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www.sciencedirect.com www.sciencedirect.com
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Variant type Glanzmann thrombasthenia caused by homozygous p.724R > X mutation in β3 integrin
PMID: 20106508
Gene: ITGB3
HGNC: 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report
PMID: 30534006
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, these two genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with acquired Glanzmann thrombasthenia presented here; however, no mention of any variants therefore insufficient evidence
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journals.sagepub.com journals.sagepub.com
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Characterization of the cDNA Encoding αIIb and β3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia
PMID: 16407493
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a variant in ITGA2B/ITGB3 however in horses not humans
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ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
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Platelet Prothrombinase Activity and Intracellular Calcium Responses in Patients With Storage Pool Deficiency, Glycoprotein IIb-IIIa Deficiency, or Impaired Platelet Coagulant Activity — A Comparison With Scott Syndrome
PMID: 9057642
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions GT patients that have been previously reported; however, this article does not mention any specific GT case reports with variants in ITGA2B and/or ITGB#
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
PreviouslyPublished: PMIDs: 8329704 and 2935207
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A nonsense mutation in the GPIIb heavy chain(Ser 870!stop) impairs platelet GPIIb–IIIa expression
PMID: 8904900
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann's thrombasthenia: report of a case and review of the literature
PMID: 20490335
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a Peurto Rican female with GT; however, no variants in ITGA2B or ITGB3 are reported in this patient
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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REPERTOIRE CLONING OF A HUMAN Molecular Immunology, Vol. 32, No. 9, pp. 613-622, 1995 Copyright 0 1995 Elsevier Science Ltd Printed in Great Britain. All rights reserved 0161~5890/95 $9.50 + 0.00 IgG INHIBITOR OF a,,& FUNCTION. THE OG IDIOTYPE
PMID: 7543974
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT proband; however, no variants in ITGA2B and/or ITGB3 are mentioned in this proband
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