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
1,679 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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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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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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The Journal of Emergency Medicine, Vol 14, No 3. pp 29Y-303. 1996 Copyright 0 1996 Elsevier Science Inc. Printed in the USA. All rights reserved 0736.4679N6 $lS.On -a- .O
PMID: 8782023
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
Note: Hypothes.is would not let me highlight the title of the article so I highlighted the journal
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA.
PMID: 8471765
Gene: ITGB3
HGNC 6156
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Local file Local file
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Serine 752 in the Cytoplasmic Domain of the p3 Integrin Subunit Is not Required for avp3 Postreceptor Signaling Events
PMID: 8870971
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, there are no new case reports in this article. There is a previously published patient with the variant of interest, which has been tagged.
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reader.elsevier.com reader.elsevier.com
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GLYCOPROTEIN h/Ha-MEDIATED ACTIVATION-DEPENDENT PLATELET ADHESION TO COLLAGEN
PMID: 1579893
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they developed an assay method of platelet adhesion to collagen in which citrated platelet rich plasma could be used as well as washed platelets in the presence of anti GPIIb/IIIa monoclonal antibody. Here, they provided the first direct evidence that the activation depended platelet adhesion to collagen is induced by ADP and that this adhesion is also mediated by GPIa/IIa.
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model
PMID: 12472580
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention any new case reports of GT; however, there are previously published probands mentioned in this article; therefore, there is insufficient evidence.
PreviouslyPublished: PMID: 2180491, 9226191, 3818957, 7509233
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www.tandfonline.com www.tandfonline.com
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A unique combination of inhibitory and partially activating mutations inb3 of a patient with variant-type Glanzmann thrombasthenia
PMID: 20438394
Gene: ITGB3
HGNC:6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations
PMID: 29439184
Gene: ITGB3
HGNC: 6156
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DDAVP infusion can modify VASP phosphorylation in humanplatelets
PMID: 15102025
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions "a platelet defect as a heterozygous Glanzmann thrombasthenia" however unable to access the article they cited after that sentence to get further information on the heterozygous variant
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin
PMID: 20492470
Gene: ITGA2B
HGNC: 6138
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www.ahajournals.org www.ahajournals.org
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Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein αIIbβ3 (GPIIb/IIIa) and αvβ3 Receptors Are Not Protected From Atherosclerosis
PMID: 11877352
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients and 2 variants in ITGA2B and/or ITGB3 that have been seen in these patients; however, there is no direct correlation for which patients harbor which variant; therefore there is insufficient evidence
"Five were homozygous for the 11-bp deletion in the β3 gene11 and 2 were homozygous for a splice site mutation of the αIIb gene"
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reader.elsevier.com reader.elsevier.com
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Molecular basis ofGlanzmann’sThrombasthenia andcurrent strategies intreatment
PMID: 12163005
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT.
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients E. J. R. NELSON Departments of HematologySearch for more papers by this author S. C. NAIR Clinical Pathology, Christian Medical College, Vellore, IndiaSearch for more papers by this author H. PERETZ Clinical Biochemistry Laboratory, Tel Aviv Sourasky Medical Center, Tel‐Aviv, IsraelSearch for more papers by this author B. S. COLLER Laboratory of Blood and Vascular Biology, The Rockefeller University, New York, NY, USASearch for more papers by this author U. SELIGSOHN Institute of Thrombosis and Hemostasis, The Chaim Sheba Medical Center, Tel‐Hashomer, IsraelSearch for more papers by this author M. CHANDY Departments of HematologySearch for more papers by this author A. SRIVASTAVA Departments of HematologySearch for more papers by this author
PMID: 16879215
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
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Local file Local file
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Independent adjudicator assessments of platelet refractorinessand rFVIIa efficacy in bleeding episodes and surgeries from themultinational Glanzmann’s thrombasthenia registry
PMID: 28370369
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: No GT probands or variants within ITGA2B or ITGB3 mentioned in this article
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www.indianpediatrics.net www.indianpediatrics.net
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Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor VLeiden and Heterozygous MTHFR C677T Gene Mutations
PMID: 30819996
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, one of these variants may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented in this article with Glanzmann thrombasthenia; however, sequencing reveals differential diagnosis to GT, with mutations in other genes.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Acquired Glanzmann's thrombasthenia caused by glycoprotein IIb/IIIa autoantibodies of the immunoglobulin G1 (IgG1), IgG2 or IgG4 subclass: a study in six cases.
PMID: 19138263
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, no mention of variants in ITGA2B and/or ITGB3
Note: Full-text found on UNC library website-- was not able to annotate on that document therefore annotation found here
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www.thieme-connect.com www.thieme-connect.com
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Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations
PMID: 25373348
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
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Acquired Glanzmann’s Thrombasthenia Associatedwith Hodgkin’s Lymphoma
PMID: 9576300
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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www.nature.com www.nature.com
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Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization
PMID: 10673707
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence
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www.tandfonline.com www.tandfonline.com
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PMA induces platelet activation of specificantigens (CD62/CD63) in GpIIb-IIIa deficientplatelets from Glanzmann's thrombasthenia
PMID: 16793673
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with Glanzmann thrombasthenia; however, the probands don't have variants in ITGAB and/or ITGB3 mentioned
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link.springer.com link.springer.com
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Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia
PMID: 28161816
Gene: ITGA2B and ITGB3
HGNC 6138 and 6156
NoEvidence: The aim of this article's study was to evaluate the clinicopathological spectrum of this syndrome and to study the platelet glycoprotein IIb/IIIa complex and platelet antibodies by flow cytometry in a cohort of children with GT in a tertiary care center in Upper Egypt. There is no mention of individual probands with variants in ITGA2B or ITGB3
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Local file Local file
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An Exon 28 Mutation Resulting in Alternative Splicing of the Glycoprotein IIb Transcript and Glanzmann's Thrombasthenia
PMID: 8111043
Gene: ITGA2B
HGNC: 6138
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www.sciencedirect.com www.sciencedirect.com
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A novel Pro126His β propeller mutation in integrin αIIb causes Glanzmann thrombasthenia by impairing progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
PMID: 18976939
Gene: ITGA2B
HGNC: 6138
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Acquired Glanzmann’s thrombasthenia associated with Hairy cell leukaemia M. Kannan All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author T. Chatterjee All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. Ahmad All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Kumar DR BRA IRCH, New Delhi, IndiaSearch for more papers by this author V. P. Choudhry All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Saxena All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author
PMID: 19594615
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with Hairy cell leukemia who presented with bleeding diathesis diagnosed to have acquired GT. There is no mention of ITGA2B/ ITGB3 variants in this individual.
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www.tandfonline.com www.tandfonline.com
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A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure
PMID: 22394243
Gene: ITGA2B
HGNC: 6138
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reader.elsevier.com reader.elsevier.com
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ANEWMETHODFORQUANTITATIVEANALYSISOFWHOLEBLOODPLATELETINTERACTIONWITHEXTRACELLULARMATRIXUNDERFLOWCONDITIONS
PMID: 9062952
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
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Fetal‐neonatal alloimmune thrombocytopenia and unexpected Glanzmann thrombasthenia carrier: report of two cases
PMID: 15819676
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
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Local file Local file
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ORIGINAL ARTICLEMutations in GPIIIa molecule as a cause for Glanzmannthrombasthenia in Indian patients
PMID: 15748237
Gene: ITGA2B and ITGB3
HGNC: 6138 and 1656
InsufficientEvidence: This article mentions 22 GT patients and variants, which these patients harbor; however, the article does not specify which patient harbors which variants therefore there is insufficient evidence
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The β3 subunit of the integrin αIIbβ3 regulates αIIb-mediated outside-in signaling
PMID: 15701721
Gene: ITGB3
HGNC: 6156
-
-
ashpublications.org ashpublications.org
-
Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen
PMID: 22065596
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants in ITGA2B or ITGB3; however, there are some experimental assays for consideration
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi‐Jewish‐type Glanzmann thrombasthenia
PMID: 12956766
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients; however, there are no variants presented in ITGA2B and/or ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
L718P mutation in the membrane-proximal cytoplasmic tail of β3 promotes abnormal αIIbβ3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype
PMID: 20081061
Gene: ITGB3
HGNC: 6156
-
-
Local file Local file
-
Severe and Relapsing Upper GastrointestinalBleeding in a Patient withGlanzmann’s Thrombasthenia
PMID: 10749344
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient (Patient DM, 55 year old); however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore there is insufficient evidence
-
-
www.sciencedirect.com www.sciencedirect.com
-
PMID: 26453840
Gene: DBT
Disease: Maple syrup urine disease
MonDO: MONDO:0009563
InheritancePattern: AR
-
-
clinchem.aaccjnls.org clinchem.aaccjnls.org
-
2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation
PMID: 15615815
Gene: ACADSB
Disease: 2-methylbutyrylglycinuria
MonDO: MONDO:0012392
InheritancePattern: AR
-
-
www.jbc.org www.jbc.org
-
Structural and Biochemical Basis for Novel Mutations in Homozygous Israeli Maple Syrup Urine Disease Patients
PMID: 14742428
Gene: BCKDHB
Disease: MSUD, type 1a
MonDO: MONDO:0023691
InheritancePattern: AR
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
PMID: 17883863
Gene: ACADSB
Disease: 2-methylbutyrylglycinuria
MonDO: MONDO:0012392
InheritancePattern: AR
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy
PMID: 34504088
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes:
-
-
www-nature-com.libproxy.lib.unc.edu www-nature-com.libproxy.lib.unc.edu
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
PMID: 11574891
Gene: TERC
Disease: Dyskeratosis congenita
MonDO: MONDO:0007485
InheritancePattern: AD
Notes: variant(s): NR_001566.1:n.408C>G, NR_001566.1:n.107_108delinsAG
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort
PMID: 32670181
Gene: RAB39B
Disease: early-onset parkinsonism-intellectual disability syndrome
MonDO: MONDO:0010709
Notes: The report analyzed RAB39B variation in a cohort of 176 individuals with early-onset Parkinson disease by copy number variation analysis, 5' and 3' UTR analyses. However, variants identified were classified as likely benign or uncertain significance.
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains
PMID: 24357492
Gene: RAB39B
Disease: early-onset parkinsonism-intellectual disability syndrome
MonDO: MONDO:0010709
InheritancePattern: X-linked
Notes: Functional evidence?
-
-
www-nejm-org.libproxy.lib.unc.edu www-nejm-org.libproxy.lib.unc.edu
-
Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
PMID 17392301
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Clinical, biochemical and molecular findings in a two-generation Morquio A family
PMID: 9660054
Gene: GALNS
Disease: Mucopolysaccharidosis IVA/Morquio A
MonDO: MONDO:0009659
InheritancePattern: AR
Family#PresentingHPOs: HP:0000884, HP:0005619, HP:0002761, HP:0012069
CountryOrigin: Poland
Family#Method1: SSCP
Family#Method2: Sanger
Family#GenotypingMethod: SSCP followed by sanger sequencing of mobility variants
Affected: 3
Unaffected: 2
Segregations: 3
eLOD: 1.45
AddSegregationInfo: II:2 and II:7 were not genotyped and not counted, III:1 and III:2 had a greater than 0.25 chance since mother was homozygous so they can not be counted
ProbandLabel: TM
Variant: R259Q and R94G
ClinVar: 706 & 705
CAID: CA251569 & CA251568
gnomAD: 16-88901743-C-T & n/a
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis
PMID: 22174130
GeneName: SLC29A3
HGNC: HGNC:23096
Disease: H syndrome
MonDO ID: MONDO:0011273
Inheritance: AR
potential mouse model showing histiocytosis and biochemical function
-
-
jem.rupress.org jem.rupress.org
-
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
PMID: 28148688
Gene: EXTL3
Disease: Neuro-immuno-skeletal Dysplasia Syndrome
MonDO ID: n/a
OMIM: 617425
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype
PMID: 12721840
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO: MONDO:0009659
InheritancePattern: AR
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
PMID: 26399558
Gene: RAB39B
Disease: early-onset parkinsonism-intellectual disability syndrome
MonDO: MONDO:0010709
InheritancePattern: X-linked
-
-
www.sciencedirect.com www.sciencedirect.com
-
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
PMID: 28132690
Gene: EXTL3
Disease: Neuro-immuno-skeletal Dysplasia Syndrome
MonDO ID: n/a
OMIM: 617425
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome
PMID: 36245961
Gene: GALNS
Disease: Mucopolysaccharidosis IVA/ Morquio A
MonDO: MONDO:0009659
InheritancePattern: AR
Notes:
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
PMID: 35729508
Gene: GALNS
Disease: Mucopolysaccharidosis Type IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes: Case Study - 23 probands
-
-
www.proquest.com www.proquest.com
-
Association between aplastic anaemia and mutations in telomerase RNA
PMID: 12090986
Gene: TERC
Disease: Dyskeratosis congenita & bone marrow failure/pulmonary fibrosis
MonDO: MONDO:0007485, MONDO:0013879
InheritancePattern: AD
Notes: variants: NR_001566.1:n.58G>A, NR_001566.1:n.72C>G, NR_001566.1:n.110_113del
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Recurrent episodes of anaphylaxis in a patient with haemophilia B: a case report
PMID: 27177407
Gene: F9
HGNCID: 3551
-
-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
The proband was a 12-year-old boy
PMID: 31904612
Gene: F9
HGNCID: 3551
-
-
link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
-
Recurrent mutations in the factor IX gene: founder effect or repeat de novo events
PMID: 8365725
Gene: F9
HGNCL: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
PMID: 16643212
Gene: F9
HGNC: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Double mutations causing haemophilia B: a double whammy!
PMID: 19236374
Gene: F9
HGNC: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Molecular characterization of haemophilia B patients in southern Brazil
PMID: 28722788
Gene: F9
HGNC: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Factor IX gene mutations in haemophilia B: a New Zealand population-based study
PMID: 27213901
Gene: F9
HGNC: 3551
-
-
www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
-
Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy
PMID: 34187575
Gene: F9
HGNC: 3551
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations
PMID: 12588353
Gene: F9
HGNC: 3551
-
-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy
PMID: 18388498
Gene: F8
HGNCID: 3546
-
-
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
-
Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4
PMID: 3009023
Gene: F9
HGNC: 3551
-
-
pdf.sciencedirectassets.com pdf.sciencedirectassets.com
-
Risk factors for inhibitor development in severe hemophilia A
PMID: 29879570
Gene: F8
HGNC: 3546
InsufficientEvidence: This article is a review, so no new case reports have been mentioned here
PreviouslyPublished
-
-
journals.lww.com journals.lww.com
-
A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
PMID:
Gene: F9
HGNCID: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
PMID: 22544209
Gene: F9
HGNC: 3551
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Analysis of 18 novel mutations in the factor VIII gene
PMID: 12930394
Gene: F8
HGNC ID: HGNC:3546
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Identification of novel and recurrent mutations in Tunisian haemophilia B patients
PMID: 21118338
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening
PMID: 31026269
Gene: F9
HGNC: 3551
-
-
illiad.lib.unc.edu illiad.lib.unc.edu
-
Spectrum of F9 mutations in Chinese haemophilia B patients:identification of 20 novel mutations
PMID:
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Mutation analysis of a cohort of US patients with hemophilia B
PMID: 24375831
Gene: F9
HGNC: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Haplotype analysis of identical factor IX mutants using PCR
PMID: 1615486
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Genetic analysis of a hemophilia B family with a novel F9 gene mutation
PMID: 31124946
Gene: F9
HGNCID: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations
PMID: 10595634
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Why Does the Human Factor IX Gene Have a G + CContent of 40%?
PMID: 1897528
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter
PMID: 30846504
Gene: F9
HGNC: 3551
-
-
illiad.lib.unc.edu illiad.lib.unc.edu
-
PMID: 8772212
Gene: F9
HGNC: 3551
-
-
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
-
Severe bleeding due to hypersensitivity to vitamin K antagonist caused by the c.109G>A (p.Ala37Thr) mutation in the F9 gene in a patient with mechanical heart valve prosthesis
PMID: 30576981
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A
PMID: 24719712
Gene: F8
HGNCID: 3546
-
-
link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
-
Major bleeding in a patient with warfarin-hypersensitive and factor IX propeptide variant, p.Ala37Thr, who was treated with a direct oral anti-Xa inhibitor
PMID: 29923114
Gene: F9
HGNC: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Effects of Exergames on Brain Dynamics in Women with Fibromyalgia: A Randomized Controlled Trial
PMID: 31336706
Gene: F8
NoEvidence: The aim of was to evaluate the effects of a 24-week "Exergame intervention" on resting brain dynamics in women with fibromyalgia in a single-blinded, randomized controlled trial. No mention of Hemophilia A or F8 gene.
-
-
-
Molecular Basis of Hemophilia B in Pakistan:Identification of Two Novel Mutation
PMID: None
Gene: F9
HGNC: 3551
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation
PMID: 25390527
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
-
A nonhuman primate model of inherited retinal disease
PMID: 30667376
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina
PMID: 8474143
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
-
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease
PMID: 25910211
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q
PMID: 15024691
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.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
PMID: 37806543
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors
PMID: 15190009
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
PMID: 28041643
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.
-
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
PMID: 28041643
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells
PMID: 19861548
Gene: TRPM1
HGNC: 7146
Disease: congenital stationary night blindness 1C
MONDO: MONDO:0013183
InheritancePattern: autosomal recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.
Penetrance: Penetrance is thought to be complete.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Osteoporosis-pseudoglioma syndrome: Description of 9 new cases and beneficial response to bisphosphonates
PMID: 18602879
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
-
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16)
PMID: 25921210
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.authorea.com www.authorea.com
-
A novel recurrent mutation in CFAP47 causes male infertility with asthenoteratozoospermia
PMID: N/A (available only on https://www.authorea.com/)
Gene: CFAP47
HGNC: 26708
Disease: X-linked spermatogenic failure 3
MONDO: MONDO:0025354
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of male infertility is between 1 in 10 and 1 in 50 males.
Penetrance: Known disease-causing alleles appear to be completely penetrant in hemizygous males.
Tags
- Gene:CFAP47
- Retina GCEP
- inferred_gene_source:hgnc_tag
- inferred_gene_hgnc:26708
- General
- HGNC:26708
- ClinGen
Annotators
URL
-
-
journals.plos.org journals.plos.org
-
Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness
PMID: 16700630
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
PMID: 18978956
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
-
Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa
PMID: 18334927
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
PMID: 32817297
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
-
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation
PMID: 17516023
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
-
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis
PMID: 30479745
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.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking
PMID: 23572516
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
PMID: 8485576
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).
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
PMID: 21407258
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.
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship
PMID: 19309691
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
-
EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones
PMID: 27846257
Gene: EYS
HGNC: 21555
Disease: Retinitis pigmentosa 25
MONDO: MONDO:0011272
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.
Penetrance: The disease appears to be completely penetrant among published families.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
PMID: 21763485
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
-
Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform
PMID: 11535825
Gene: TRPM1
HGNC: 7146
Disease: congenital stationary night blindness 1C
MONDO: MONDO:0013183
InheritancePattern: autosomal recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1C specifically is unknown.
Penetrance: Penetrance is thought to be complete.
-
-
link.springer.com link.springer.com
-
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations
PMID: 25359263
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
-
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
PMID: 26103963
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-nature-com.libproxy.lib.unc.edu www-nature-com.libproxy.lib.unc.edu
-
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene
PMID: 21107338
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Clinical features of affected males with X linked ocular albinism
PMID: 8494858
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
-
Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina
PMID: 17004930
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.molvis.org www.molvis.org
-
Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect
PMID: 9808841
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
-
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
PMID: 29178648
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
PMID: 28771251
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies
PMID: 18294254
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL
PMID: 20157158
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
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
PMID: 7493036
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
-
TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia
PMID: 20889716
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor
PMID: 11956231
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.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Disease mechanisms of X‐linked cone dystrophy caused by missense mutations in the red and green cone opsins
PMID: 34547123
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).
-
-
iovs.arvojournals.org iovs.arvojournals.org
-
A Novel GUCY2D Mutation, V933A, Causes Central Areolar Choroidal Dystrophy
PMID: 22695961
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.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia
PMID: 40227176
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
-
Kinetics of visual pigment regeneration in excised mouse eyes and in mice with a targeted disruption of the gene encoding interphotoreceptor retinoid-binding protein or arrestin
PMID: 10508404
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.
-
-
journals.asm.org journals.asm.org
-
The Role of Ceroid Lipofuscinosis Neuronal Protein 5 (CLN5) in Endosomal Sorting
PMID: 22431521
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
-
A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
PMID: 18032602
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
-
Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model
PMID: 21039428
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
-
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
PMID: 23143442
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
-
A Naturally Occurring Mouse Model of Achromatopsia: Characterization of the Mutation in Cone Transducin and Subsequent Retinal Phenotype
PMID: 23580486
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
PMID: 30668888
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
-
-
-
Novel Mutation in the TIMP3 Gene Causes Sorsby Fundus Dystrophy
PMID: 11879143
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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Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
PMID: 9295268
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.tandfonline.com www.tandfonline.com
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Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis
PMID: 2280973
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
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Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
PMID: 18523664
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
-
Retinal findings in a patient of French ancestry with CABP4-related retinal disease
PMID: 29525873
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.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Phenotypic expansion of KCNJ13- associated snowflake vitreoretinal degeneration
PMID: 36440807
Gene: KCNJ13
HGNC: 6259
Disease: snowflake vitreoretinal degeneration
MONDO: 0008663
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of snowflake vitreoretinal degeneration is ~1 in 1,000,000 (https://www.orpha.net/en/disease/detail/91496).
Penetrance: Known disease-causing alleles appear to be completely penetrant (PMID: 14644728).
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
PMID: 32531858
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
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Regulation of melanosome number, shape and movement in the zebrafish retinal pigment epithelium by OA1 and PMEL
PMID: 25690007
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
-
Whole Exome Sequencing Reveals Potentially Pathogenic Variants in a Small Subset of Premenopausal Women with Idiopathic Osteoporosis
PMID:34743040
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
-
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population
PMID: 19402160
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.
-
-
link.springer.com link.springer.com
-
Mutations in human IFT140 cause non-syndromic retinal degeneration
PMID: 26216056
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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www.sciencedirect.com www.sciencedirect.com
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LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
PMID: 11719191
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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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Interphotoreceptor Retinoid-Binding Protein (IRBP) in Retinal Health and Disease
PMID: 33328889
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
PMID: 24849935
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.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
PMID: 8944027
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes
PMID: 15981244
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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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition
PMID: 19717472
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.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Gene therapy for red-green colour blindness in adult primates
PMID: 19759534
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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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa
PMID: 25383878
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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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutations in the Retinal Guanylate Cyclase (RETGC-1) Gene in Dominant Cone-Rod Dystrophy
PMID: 9618177
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.
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bjo.bmj.com bjo.bmj.com
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Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby’s fundus dystrophy or retinitis pigmentosa
PMID: 9924344
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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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation
PMID: 9400791
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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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
PMID: 35608844
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genome.cshlp.org genome.cshlp.org
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Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.
PMID: 8919688
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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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray
PMID: 20034086
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www.jbc.org www.jbc.org
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The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice
PMID: 27703005
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.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Bardet-Biedl Syndrome in Rhesus Macaques: A Nonhuman Primate Model of Retinitis Pigmentosa
PMID: 31589838
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.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The map position of the rds gene on the 17th chromosome of the mouse
PMID: 419532
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).
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish
PMID: 27737822
Gene: EYS
HGNC: 21555
Disease: Retinitis pigmentosa 25
MONDO: MONDO:0011272
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.
Penetrance: The disease appears to be completely penetrant among published families.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Mutation of cGMP phosphodiesterase 6alpha'-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish
PMID: 18824093
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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Human cone photoreceptor dependence on RPE65 isomerase
PMID: 17848510
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
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A novel phenotype associated with the R162W variant in the KCNJ13 gene
PMID: 35477418
Gene: KCNJ13
HGNC: 6259
Disease: snowflake vitreoretinal degeneration
MONDO: 0008663
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of snowflake vitreoretinal degeneration is ~1 in 1,000,000 (https://www.orpha.net/en/disease/detail/91496).
Penetrance: Known disease-causing alleles appear to be completely penetrant (PMID: 14644728).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort
PMID: 30025130
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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PMID: 20691256
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 a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7
PMID: 26557828
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.
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www.pnas.org www.pnas.org
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RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells
PMID: 21078983
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Rod phosphodiesterase-6 PDE6A and PDE6B Subunits Are Enzymatically Equivalent
PMID: 20940301
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.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Severe ocular phenotypes in Rbp4-deficient mice in the C57BL/6 genetic background
PMID: 26974396
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13
PMID: 27203561
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.
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