Dominant inheritance of a novel integrin β3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families
PMID: 19336737
Gene: ITGB3
HGNC: 6156
2,172 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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link.springer.com link.springer.com
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Glanzmann Thrombasthenia with Acute Myeloid Leukemia Successfully Treated by Bone Marrow Transplantation
PMID: 15717695
Gene: ITGA2B
HGNC: 6138
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Glanzmann Thrombasthenia in Two Iraqi-Jewish Siblings Is Caused by a Novel Splice Junction Mutation in the Glycoprotein IIb
PMID: 9663713
Gene: ITGA2B
HGNC: 6138
Tags
- inferred_gene_source:hgnc_tag
- ClinGen ITGA2B/ITGB3
- inferred_gene_hgnc:6156
- ITGA2B
- General
- ClinGen
- HGNC:6156
Annotators
URL
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Glanzmann thrombasthenia in a 17‐year‐old Peruvian Paso mare
PMID: 21291483
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, in a horse not human
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Antiplatelet antibodies in cases of Glanzmann's thrombasthenia with and without a history of multiple platelet transfusion
PMID: 20407646
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article studies the antiplatelet antibodies in 23 patients with GT who may have missense mutations; however, specific variants/mutations in ITGA2B and ITGB3 are not mentioned; therefore, we have insufficient evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann'sthrombastheniawithmildvonWillebrand'sdisease
PMID: 8282841
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
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www.tandfonline.com www.tandfonline.com
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Glanzmann’s thrombasthenia: updated
PMID: 12487785
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is a review on Glanzmann thrombasthenia. There is no mention of GT patients with variants in ITGA2B and/or ITGB3
Bold
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Local file Local file
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Excessive Gingival Bleeding in Two Patients WithGlanzmann Thrombasthenia
PMID: 17539731
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two GT case reports of individuals with excessive gingival bleeding; however, there was no mention of variants in ITGA2B and/or ITBG3 in these two probands discussed in the article therefore we have insufficient evidene
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann Thrombasthenia
PMID: 30855858
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156 respectively as shown above.
InsufficientEvidence: This is a summary and review of Glanzmann thrombasthenia. This article cites other articles which may mention GT patients/case reports.
PreviouslyPublished: PMID: 26185478
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Local file Local fileThomson1
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Molecular genetic diagnosis of Tunisian Glanzmannthrombasthenia patients reveals a common nonsensemutation in theITGA2Bgene that seems to be specificfor the studied population
PMID: 30325339
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Eptifibatide-induced thrombocytopenia and thrombosis in humans require FcγRIIa and the integrin β3 cytoplasmic domain
PMID: 19197137
Gene: ITGB3
HGNC: 6156
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Local file Local file
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Acquired thrombasthenia due to GPIIbIIIaplatelet autoantibodies in a 4-yr-old child
PMID: 16343278
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 4 year old with acquired thrombasthenia; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore there is insufficient evidence
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ashpublications.org ashpublications.org
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Recombinant Factor VIIa Is Effective for Bleeding and Surgery in Patients With Glanzmann Thrombasthenia
PMID: 10572113
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzmann thrombasthenia patients; however, there is no mention of variants in ITGA2B and/or ITGB3 within these patients; therefore, there is insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder
PMID: 15461628
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, variants in ITGA2B and/or ITGB3 are not mentioned
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journals.sagepub.com journals.sagepub.com
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Intensive Menstrual BleedingSuccessfully Treated With RecombinantFactor VIIa in Glanzmann Thrombasthenia
PMID: 20460355
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with GT; however, no variants in ITGA2B or ITGB3 are mentioned
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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GlanzmannThrombastheniaResultingfromaSingleAminoAcidSubstitutionbetweentheSecondandThirdCalcium-bindingD
PMID: 7706461
Gene: ITGA2B
HGNC: 6138
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watermark.silverchair.com watermark.silverchair.com1562.pdf1
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Glycoprotein IIb Leu214Pro Mutation Produces Glanzmann ThrombastheniaWith Both Quantitative and Qualitative Abnormalities in GPIIb/IIIa
PMID: 9473221
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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Double heterozygosity for a novel missense mutation of Ile304to Asn in addition to the missense mutation His280 to Pro in theintegrinb3gene as a cause of the absence of plateletaIIbb3inGlanzmann’s thrombasthenia
PMID: 15634267
Gene: ITGB3
HGNC: 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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β3-integrin–deficient mice are a model for Glanzmann thrombasthenia showing placental defects and reduced survival
PMID: 9916135
Gene: ITGA2B and/or ITGB3
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITBG3; therefore there is no evidence. Researchers in this study generated a strain of B3 null mice, these mice will allow analysis of other suggested functions of B3 integrins.
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ashpublications.org ashpublications.org
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Recombinant factor VIIa restores aggregation of αIIbβ3-deficient platelets via tissue factor–independent fibrin generation
PMID: 14592825
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence
In this particular study, the effect of rFVIIa on the aggregation of αIIbβ3-deficient platelets was investigated in a system consisting of isolated platelets and purified coagulation factors.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Involvement of GPIIb-IIIa on Human Platelets in Phosphotyrosine-Specific Dephosphorylation
PMID: 7687438
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and ITGB3. Rather, This article reports another aspect of relationship between GPIIIb -IIIa and protein tyrosine phosphorylation, that is, the involvement of GPIIb-IIIa in dephosphorylation of certain tyrosine phosphorylated proteins
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www.tandfonline.com www.tandfonline.com
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Use of allogeneic stem cell transplantation for moderate–severe Glanzmann thrombasthenia
PMID: 25548835
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article reports a case study with an individual with GT; however, no variants in ITGA2B or ITGB3 are reported here
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Linkage of four polymorphisms on theaIIbgene
PMID: 9695983
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there is no specific details of the GT patient's blood that was drawn to study these variants; therefore, there is insufficient evidence
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Local file Local file
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INVITEDREVIEWAdvances in our understanding of the molecular basis ofdisorders of platelet function
PMID: 21781244
Genes: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions several variants in ITGB3; however no mention of individual probands with these variants
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Local file Local file
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Spontaneoushaemothorax:anuncommonpresentationofGlanzmannthrombasthenia
PMID: 12434904
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, the article does not discuss this patient having variants in ITGA2B and/or ITGB3 therefore there is insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Anti‐αIIbβ3 immunization in Glanzmann thrombasthenia: review of literature and treatment recommendations Mathieu Fiore Corresponding Author E-mail address: mathieu.fiore@chu-bordeaux.fr http://orcid.org/0000-0002-2526-8826 Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Correspondence: Dr Mathieu Fiore, Laboratoire d'hématologie, Centre de Référence des Pathologies Plaquettaires, CHU de Bordeaux, Hôpital Cardiologique, Pessac, France. E‐mail: mathieu.fiore@chu-bordeaux.frSearch for more papers by this author Roseline d'Oiron Centre for Haemophilia and Rare Congenital Disorders, University Hospital Paris‐Sud, AP‐HP, Bicêtre Hospital, Kremlin‐Bicêtre, FranceSearch for more papers by this author Xavier Pillois Laboratory of Haematology, Reference Centre for Platelet Disorders, University Hospital of Bordeaux, Pessac, France Cardiovascular Adaptation to Ischaemia, Inserm U1034, Pessac, FranceSearch for more papers by this author Marie‐Christine Alessi Laboratory of Haematology, University Hospital of La Timone, French Reference Centre for Rare Platelet Disorders, Marseille, FranceSearch for more papers by this author
PMID:
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: Article mentions French gypsy mutation (c.1544+1G>A); however, no single proband to tie information to therefore we have insufficient evidence
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www.tandfonline.com www.tandfonline.com
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Hereditary Disorders of Platelet Function
PMID: 21043747
Gene: N/A
HGNC: N/A
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This article gives a general overview of bleeding disorders including GT, and variants that have been reported in previous papers.
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www.jbc.org www.jbc.org
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The αvβ3 Integrin Regulates α5β1-mediated Cell Migration toward Fibronectin
PMID: 9361020
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT variants in ITGA2B/ITGB3; however, there are no GT patients harboring these variants; therefore, there is insufficient evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations
PMID: 31029159
Gene: ITGB3 and ITGA2B
HGNC: 6156 and 6138 respectively as shown above.
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www.sciencedirect.com www.sciencedirect.com
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Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series
PMID: 28341450
General: ITGA2B and/or ITGB3 (Not mentioned in article; however, implied due to patients having GT)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with Glanzmann thrombasthenia; however no mention of variants in ITGA2B or ITGB3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann’s thrombasthenia
PMID: 18078017
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article summarizes GT and its mechanism of action. No information on GT probands or variants in ITGA2B and/or ITGB3
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www.sciencedirect.com www.sciencedirect.com
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Glanzmann thrombasthenia and pregnancy: about a case, a review of the literature Glanzmann's Thrombasthenia and pregnancy: a case and a review of the literature
PMID: 14612172
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review of GT and pregnancy. This article mentions a GT proband; however, there is no mention of variants in ITGA2B and/or ITGB3
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www.jbc.org www.jbc.org
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Probing Conformational Changes in the I-like Domain and the Cysteine-rich Repeat of Human β3 Integrins following Disulfide Bond Disruption by Cysteine Mutations IDENTIFICATION OF CYSTEINE 598 INVOLVED IN αIIbβ3 ACTIVATION*
PMID: 11507099
Gene: ITGB3
HGNC: 6156
PreviouslyPublished: PMID: 3818957, (citation 29 and 46-would not open), 2428841, 2392682, 9684783, (citation 41, 52, 53, 54 would not open), 10233432
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www.ahajournals.org www.ahajournals.org
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Rapid and Simple Platelet Function Assay to Assess Glycoprotein IIb/IIIa Receptor Blockade
PMID: 9054743
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
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www.sciencedirect.com www.sciencedirect.com
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Pregnancy in mother with Glanzmann's thrombasthenia and isoantibody against GPIIb–IIIa: Is there a foetal risk?
PMID: 16054952
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Novel point mutations in the αIIb subunit (Phe289 → Ser, Glu324 → Lys and Gln747 → Pro) causing thrombasthenic phenotypes in four Japanese patients
PMID: 9722314
Gene: ITGA2B
HGNC: 6138
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Local file Local file
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β3 integrins: major therapeutic targets of the near future
PMID: 15544009
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions the variant p.Ser752Pro however the variant is not tied to a proband with GT; therefore, we have insufficient evidence
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ashpublications.org ashpublications.org
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Missense mutations in the β3 subunit have a different impact on the expression and function between αIIbβ3 and αvβ3
PMID: 11806996
Gene: ITGB3
HGNC: 6156
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www.sciencedirect.com www.sciencedirect.com
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Inherited platelet disorders: Management of the bleeding risk Thrombopathies / Hereditary Thrombocytopenia : Management of a Hemorrhagic Risk
PMID: 30077511
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants within ITGA2B and ITGB3
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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S3
Case#: S3, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125, HP:0005261
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NM_000132.3:c.95delC
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
S13
Case#: S13, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Family history of HA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125, HP:0005261
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
S30
Case#: S30, Iranian
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 30%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NM_000132.3:c.2090T>C
LegacyVariant:
ClinVar: No
CAID: CA414909005
gnomAD:
-
S17
Case#: S17, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NM_000132.3:c.1063C>T
LegacyVariant:
ClinVar: No
CAID: CA255031
gnomAD:
-
S1
Case#: S1, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125, HP:0005261
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NM_000132.3:c.209_212del
LegacyVariant:
ClinVar: No
CAID: CA255050
gnomAD:
-
S22
Case#: S22, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
S9
Case#: S9, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125, HP:0005261
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NM_000132.3:c.2945dupA
LegacyVariant:
ClinVar: No
CAID: CA255142
gnomAD:
-
S2
Case#: S2, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125, HP:0005261
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
S21
Case#: S21, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Family history of HA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125, HP:0005261
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NM_000132.3:c.6213A>T
LegacyVariant:
ClinVar: No
CAID: CA414903164
gnomAD:
-
S24
Case#: S24, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Mucosal bleeding, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The F8 gene was directly sequenced for all 26 exons using the Sanger sequencing method. PCR was performed and subsequently analyzed
Gene: F8
Variant: NM_000132.3:c.5509A>T
LegacyVariant:
ClinVar: No
CAID: CA414908661
gnomAD:
Tags
- Inhibitor:Present
- DiseaseEntity:FactorVIIIDeficiency
- Mutation:Nonsense
- inferred_gene_hgnc:3546
- CAID:CA414903164
- inferred_gene_source:hgnc_tag
- CAID:CA414908661
- FVIIItesting:Partial
- Mutation:Frameshift
- ParentalTest:Unknown
- Mutation:Intronic
- Gene:F8
- UnregisteredVariant
- CAID:CA414909005
- CAID:CA255142
- ClinGen Coag Fac Def VCEP
- AssayDiscrepancy:NotReported
- HGNC:3546
- DiseaseSeverity:SevereHemophiliaA
- CaseInfo
- Inhibitor:Absent
- Mutation:Missense
- CAID:CA255031
- CAID:CA255050
Annotators
URL
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www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
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009–1005
Case#: 009-1005
DiseaseAssertion: Hemophilia A,
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C ..., Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
001–2046
Case#: 001-2046
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 1% < FVIII:C < 5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.822G>T
LegacyVariant:
ClinVar: No
CAID: CA337337669
gnomAD:
-
004–2003
Case#: 004-2003
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.5589delG
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
004–2015
Case#: 004-2015
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.2152_2153delAA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
084–2004
Case#: 084-2004
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.1910A>G
LegacyVariant:
ClinVar: No
CAID: CA414909849
gnomAD:
-
071–2024
Case#: 071-2024
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 1% < FVIII:C < 5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.2167G>A
LegacyVariant:
ClinVar: No
CAID: CA255138
gnomAD:
-
066–2001
Case#: 066-2001
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.6098T>C
LegacyVariant:
ClinVar: No
CAID: CA414904604
gnomAD:
-
006–1001
Case#: 006-1001
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
072–2009
Case#: 072-2009
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.1332A>T
LegacyVariant:
ClinVar: No
CAID: CA414914974
gnomAD:
-
005–2001
Case#: 005-2001
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.3277delAT
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
003–2014
Case#: 003-2014
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID:
gnomAD:
-
015–2002
Case#: 015-2002
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.6876_6877delCT
LegacyVariant:
ClinVar: No
CAID: CA873368227
gnomAD:
-
071–2036
Case#: 071-2036
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID:
gnomAD:
-
038–1010
Case#: 038-1010
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
071–2001
Case#: 071-2001
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.901C>T
LegacyVariant:
ClinVar: No
CAID: CA414917990
gnomAD:
-
035–2013
Case#: 035-2013
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 1% < FVIII:C < 5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.5275G>A
LegacyVariant:
ClinVar: No
CAID: CA414911087
gnomAD:
-
091–2010
Case#: 091-2010
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.1475A>G
LegacyVariant:
ClinVar: No
CAID: CA337334224
gnomAD:
-
071–2023
Case#: 071-2023
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 1% < FVIII:C < 5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.2167G>A
LegacyVariant:
ClinVar: No
CAID: CA255138
gnomAD:
-
047–2001
Case#: 047-2001
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 1% < FVIII:C < 5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
084–2001
Case#: 084-2001
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.100delG
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
091–2005
Case#: 091-2005
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 1% < FVIII:C < 5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.5393C>A
LegacyVariant:
ClinVar: No
CAID: CA414909064
gnomAD:
-
020–2054
Case#: 020-2054
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.1899G>T
LegacyVariant:
ClinVar: No
CAID: CA414910251
gnomAD:
-
001–2050
Case#: 001-2050
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.4011insA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
060–2004
Case#: 060-2004
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.272T>C
LegacyVariant:
ClinVar: No
CAID: CA414920117
gnomAD:
-
004–2012
Case#: 004-2012
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
020–2063
Case#: 020-2063
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.558C>G
LegacyVariant:
ClinVar: No
CAID: CA414919454
gnomAD:
-
002–1002
Case#: 002-1002
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
072–2007
Case#: 072-2007
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.5686_5687insA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
071–2035
Case#: 071-2035
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID:
gnomAD:
-
020–2020
Case#: 020-2020
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
001–2025
Case#: 001-2025
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.986G>A
LegacyVariant:
ClinVar: No
CAID: CA255089
gnomAD:
-
010–1002
Case#: 010-1002
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant:
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
020–2038
Case#: 020-2038
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.1834C>T
LegacyVariant:
ClinVar: No
CAID: CA255129
gnomAD:
-
015–2011
Case#: 015-2011
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 1% < FVIII:C < 5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.1241A>G
LegacyVariant:
ClinVar: No
CAID: CA414915839
gnomAD:
-
086–2006
Case#: 086-2006
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.1537G>C
LegacyVariant:
ClinVar: No
CAID: CA414912560
gnomAD:
-
020–2013
Case#: 020-2013
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.5368_5370delATC
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
001–2041
Case#: 001-2041
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: The 26 exons and their flanking regions of F8 were amplified by PCR using specific primers with a simple modification
Gene: F8
Variant: NM_000132.3:c.2167G>A
LegacyVariant:
ClinVar: No
CAID: CA255138
gnomAD:
Tags
- Inhibitor:Present
- DiseaseEntity:FactorVIIIDeficiency
- inferred_gene_source:hgnc_tag
- CAID:CA414909064
- CAID:CA414912560
- CAID:CA414919454
- Gene:F8
- FIXtesting:Partial
- CAID:CA873368227
- ClinGen Coag Fac Def VCEP
- CAID:CA414911087
- CAID:CA255089
- CAID:CA414904604
- CAID:CA255129
- CAID:CA414914974
- HGNC:3546
- CaseInfo
- Inhibitor:NotReported
- DiseaseSeverity:SevereHemophiliaA
- SupplementalData
- ToCheck
- PreviousTesting:None
- DiseaseSeverity:MildHemophiliaA
- DiseaseSeverity:ModerateHemophiliaA
- CAID:CA255146
- CAID:CA414910251
- CAID:CA414920117
- CAID:CA414915839
- inferred_gene_hgnc:3546
- Mutation:Large
- Zygosity:NoZygosityAssertion
- InheritancePattern:NoInheritanceAssertion
- FVIIItesting:Partial
- ParentalTest:Unknown
- CAID:CA255138
- CAID:CA414909849
- UnregisteredVariant
- AssayDiscrepancy:NotReported
- CAID:CA414917990
- Inhibitor:Absent
- Mutation:Missense
- CAID:CA337337669
- CAID:CA337334224
Annotators
URL
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Today, the Danish family consists of 275 known persons, all of whom are the offspring of six original proband siblings born in the middle of the nineteenth century ( Fig 1); at present, 28 living cases of mild haemophilia are known in the family. A cousin-to-cousin marriage of an affected male haemophiliac and an obligate carrier resulted in four sisters homozygous for the haemophilic mutation.
Case#: 8, male
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Proband's mother and sister are confirmed carriers of hemophilia
ParentalTesting: Mother was tested and found to be a carrier of hemophilia
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%, FVIII:Ag = 25%, assay discrepancy present (OSA>CSA)
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: For exons 1–13 and 15–26, PCR primers were designed for denaturing gradient gel electrophoresis (DGGE) and exon 14 was amplified in four overlapping fragments and subsequently sequenced. VWF:Ag was tested and found to be within normal ranges.
Gene: F8
Variant: NM_000132.3:c.694A>T
LegacyVariant:
ClinVar: No
CAID: CA414919124
gnomAD:
Tags
- AssayDiscrepancy:OSA>CSA
- DiseaseEntity:FactorVIIIDeficiency
- inferred_gene_hgnc:3546
- inferred_gene_source:hgnc_tag
- Zygosity:NoZygosityAssertion
- ParentalTest:Mother
- FamilyInfo
- Gene:F8
- FVIIItesting:Full
- ClinGen Coag Fac Def VCEP
- InheritancePattern:Xlinked
- HGNC:3546
- PreviousTesting:Additional
- CaseInfo
- Inhibitor:NotReported
- DiseaseSeverity:MildHemophiliaA
- Mutation:Missense
- CAID:CA414919124
Annotators
URL
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
FVIII inhibitor risk correlated with F8 gene variants in 296 unrelated male Chinese patients with haemophilia A Hongfei Kang, orcid.org/0000-0001-8350-9563 Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorJingjing Li, Department of Education, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorShengmei Chen, Department of Thrombosis and Hemostasis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorBai Li, Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorYin Feng, Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, ChinaSearch for more papers by this authorXiangdong Kong, Corresponding Author kongxd1969@126.com Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China Correspondence Xiangdong Kong, Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, NO.1 Jianshe East Road, Zhengzhou 450052, China. Email: kongxd1969@126.comSearch for more papers by this author
PMID: 32897612
Gene: F8
HGNCID: 3546
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
71
Case#: 71, male, 6 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 4.2%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.5398C>T
LegacyVariant:
ClinVar: 10275
CAID: CA255163
gnomAD:
-
112
Case#: 112, male, 31 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.8%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.265_265+1dup
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
134
Case#: 134, male, 6 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.5152_5153insACACTAT
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
124
Case#: 124, male, 17 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.14dupT
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
102
Case#: 102, male, 17 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 65.7%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.6617A>T
LegacyVariant:
ClinVar: No
CAID: CA414906010
gnomAD:
-
32
Case#: 32, male, 18 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.362G>A
LegacyVariant:
ClinVar: No
CAID: CA414919924
gnomAD:
-
37
Case#: 37, male, 53 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.397T>C
LegacyVariant:
ClinVar: No
CAID: CA414919824
gnomAD:
-
143
Case#: 143, male, 19 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 3.1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.3144_3145delinsAG
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
25
Case#: 25, male, 13 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.6976C>T
LegacyVariant:
ClinVar: 10085
CAID: CA255007
gnomAD:
-
184
Case#: 184, male, 6 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 5.1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.del exon26
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
109
Case#: 109, male, 29 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.6967C>T
LegacyVariant:
ClinVar: 10333
CAID: CA255225
gnomAD:
-
11
Case#: 11, male, 32 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.1765A>T
LegacyVariant:
ClinVar: No
CAID: CA414911223
gnomAD:
-
14
Case#: 14, male, 10 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.1990C>T
LegacyVariant:
ClinVar: No
CAID: CA414909465
gnomAD:
-
76
Case#: 76, male, 30 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.5551T>C
LegacyVariant:
ClinVar: No
CAID: CA414908519
gnomAD:
-
8
Case#: 8, male, 11 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.1063C>T
LegacyVariant:
ClinVar: 10139
CAID: CA255031
gnomAD:
-
65
Case#: 65, male, 13 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 2.1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.2167G>A
LegacyVariant:
ClinVar: 10246
CAID: CA255138
gnomAD:
-
181
Case#: 181, male, 42 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.del exons14_26
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
17
Case#: 17, male, 10 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.2404C>T
LegacyVariant:
ClinVar: No
CAID: CA414901774
gnomAD:
-
140
Case#: 140, male, 12 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.dup exons1_22
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
153
Case#: 153, male, 52 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.3409_3410delCT
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
176
Case#: 176, male, 18 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.del exon6
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
89
Case#: 89, male, 36 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.6406G>A
LegacyVariant:
ClinVar: No
CAID: CA414899430
gnomAD:
-
136
Case#: 136, male, 20 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.dup exon14
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
162
Case#: 162, male, 27 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
30
Case#: 30, male, 27 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 4.1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.361G>A
LegacyVariant:
ClinVar: No
CAID: CA414919926
gnomAD:
-
81
Case#: 81, male, 19 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 7.1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.5707G>A
LegacyVariant:
ClinVar: No
CAID: CA414907751
gnomAD:
-
128
Case#: 128, male, 10 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.3637dupA
LegacyVariant:
ClinVar: No
CAID: CA10568191
gnomAD:
-
62
Case#: 62, male, 50 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 38.5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.2111C>T
LegacyVariant:
ClinVar: No
CAID: CA414908864
gnomAD:
-
147
Case#: 147, male, 22 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.1126delG
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
158
Case#: 158, male, 7 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 14.3%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
180
Case#: 180, male, 13 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.del exon14
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
46
Case#: 46, male, 21 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 2.3%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.1172G>A
LegacyVariant:
ClinVar: 10111
CAID: CA120918
gnomAD:
-
167
Case#: 167, male, 18 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.5046delC
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
53
Case#: 53, male, 21 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 15.9%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.1834C>T
LegacyVariant:
ClinVar: 10236
CAID: CA255129
gnomAD:
-
70
Case#: 70, male, 16 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 3%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.5398C>T
LegacyVariant:
ClinVar: 10275
CAID: CA255163
gnomAD:
-
31
Case#: 31, male, 41 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.361G>A
LegacyVariant:
ClinVar: No
CAID: CA414919926
gnomAD:
-
133
Case#: 133, male, 59 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.4599_4600dup
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
171
Case#: 171, male, 7 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%, Inhibitor present
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.del exons1_14
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
21
Case#: 21, male, 16 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C < 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.6403C>T
LegacyVariant:
ClinVar: 10088
CAID: CA255011
gnomAD:
-
94
Case#: 94, male, 8 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 8.5%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.6448G>A
LegacyVariant:
ClinVar: No
CAID: CA414907951
gnomAD:
-
3
Case#: 3, male, 39 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 2%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.616G>T
LegacyVariant:
ClinVar: No
CAID: CA414919319
gnomAD:
-
27
Case#: 27, male, 30 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1%
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: F8 gene variants were identified using next-generation sequencing (NGS), inverse shifting PCR and MLPA
Gene: F8
Variant: NM_000132.3:c.266G>C
LegacyVariant:
ClinVar: No
CAID: CA414920127
gnomAD:
Tags
- Inhibitor:Present
- DiseaseEntity:FactorVIIIDeficiency
- Mutation:Nonsense
- ClinVarID:10246
- Zygosity:Hemizygous
- inferred_gene_source:hgnc_tag
- Mutation:Frameshift
- CAID:CA255007
- ClinVarID:10139
- CAID:CA414919319
- ClinVarID:10085
- Gene:F8
- ClinVarID:10275
- CAID:CA414907751
- CAID:CA10568191
- FIXtesting:Partial
- ClinGen Coag Fac Def VCEP
- CAID:CA414906010
- CAID:CA414908519
- ClinVarID:10236
- Mutation:Splice
- CAID:CA414919924
- ParentalConfirmation:Maternity
- ClinVarID:10111
- CAID:CA255129
- HGNC:3546
- CaseInfo
- DiseaseSeverity:SevereHemophiliaA
- CAID:CA414919926
- SupplementalData
- ToCheck
- DiseaseSeverity:MildHemophiliaA
- CAID:CA414909465
- DiseaseSeverity:ModerateHemophiliaA
- CAID:CA414911223
- ClinVarID:10088
- CAID:CA255146
- CAID:CA414919824
- inferred_gene_hgnc:3546
- CAID:CA255225
- Mutation:Large
- CAID:CA414920127
- ClinVarID:10333
- CAID:CA255138
- CAID:CA414899430
- CAID:CA414908864
- CAID:CA414907951
- UnregisteredVariant
- CAID:CA255163
- CAID:CA414901774
- CAID:CA255011
- AssayDiscrepancy:NotReported
- Inhibitor:Absent
- Mutation:Missense
- CAID:CA255031
- CAID:CA120918
- DiseaseSeverity:SevereHemophiliaB
Annotators
URL
-
-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
Table 1
Case#: Cz22, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C <1%
CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
Gene: F8
Variant: NM_000132.3(F8):c.1336C>T (p.Arg446Ter)
ClinVar: 10145 https://www.ncbi.nlm.nih.gov/clinvar/variation/10145/
CAID: CA255038
gnomAD: Not reported
-
Table 2
Case#: Cz19, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C 3%
CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
Gene: F8
Variant: NM_000132.3:c.1538-18G>A
ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/
CAID: CA873354114
gnomAD: Not reported
-
Table 2
Case#: Cz2, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C 4%
CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
Gene: F8
Variant: NM_000132.3:c.1538-18G>A
ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/
CAID: CA873354114
gnomAD: Not reported
-
Table 2
Case#: Cz34, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C 4%
CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
Gene: F8
Variant: NM_000132.3:c.1538-18G>A
ClinVar: 811357 https://www.ncbi.nlm.nih.gov/clinvar/variation/811357/
CAID: CA873354114
gnomAD: Not reported
-
Table 1
Case#: Cz21, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C <1%
CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
Gene: F8
Variant: F8, IVS22 INV
ClinVar: 10150 https://www.ncbi.nlm.nih.gov/clinvar/variation/10150/
CAID: NA
gnomAD: Not reported
-
Table 1
Case#: Cz14, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C <1%
CasePreviousTesting: Polymerase chain reaction (PCR) analysis, Long PCR for detecting the intron 22 inversion was performed, Direct cycle sequence analysis using the Taq dye-deoxy terminator method
Gene: F8
Variant: NM_000132.3(F8):c.5953C>T (p.Arg1985Ter)
ClinVar: 10300 https://www.ncbi.nlm.nih.gov/clinvar/variation/10300/
CAID: CA255191
gnomAD: Not reported
Tags
- DiseaseEntity:FactorVIIIDeficiency
- Mutation:Nonsense
- inferred_gene_hgnc:3546
- CAID:CA255191
- inferred_gene_source:hgnc_tag
- Zygosity:NoZygosityAssertion
- FVIIItesting:Partial
- ClinVarID:10300
- ParentalTest:Unknown
- Mutation:Intronic
- Gene:F8
- ClinGen Coag Fac Def VCEP
- InheritancePattern:Xlinked
- CAID:CA255038
- CAID:CA873354114
- ClinVarID:811357
- ClinVarID:10150
- HGNC:3546
- DiseaseEntity:FactorIXDeficiency
- CaseInfo
- ClinVarID:10145
Annotators
URL
-
-
www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
-
Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
PMID: 27734074
Gene: F8, F9
HGNCID: 3546, 3551
-
c.1307A>C
Case#: 10
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 22% (Mild Phenotype), No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F8
Variant: NM_000132.3:c.1307A>C (p.Gln436Pro)
ClinVar: NA
CAID: CA414915176
gnomAD: Not reported
-
c.1274T>A
Case#: 42
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FIX:C 10% (Mild Phenotype)
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F9
Variant: NM_000133.3:c.1274T>A (p.Leu425Ter )
ClinVar: NA
CAID: CA414446997
gnomAD: Not reported
-
c.689G>A
Case#: 45
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FIX:C 5% (Moderate Phenotype)
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F9
Variant: NM_000133.3:c.689G>A (p.Gly230Glu)
ClinVar: NA
CAID: CA414441179
gnomAD: Not reported
-
c.5123G>A
Case#: 20
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 18%, Mild Phenotype, No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F8
Variant: NM_000132.3(F8):c.5123G>A (p.Arg1708His)
ClinVar: 10266 https://www.ncbi.nlm.nih.gov/clinvar/variation/10266/
CAID: CA255154
gnomAD: MAF for Arg1708His in the South Asian population 0.00005507<br> https://gnomad.broadinstitute.org/variant/X-154156942-C-T?dataset=gnomad_r2_1
-
c.6845C>G
Case#: 36
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 33/30%, Mild Phenotype, No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F8
Variant: NM_000132.3:c.6845C>G (p.Ser2282Cys)
ClinVar: NA
CAID: CA414903435
gnomAD: Not reported
-
c.396A>C
Case#: 3
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 18% (Mild Phenotype), No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F8
Variant: NM_000132.3(F8):c.396A>C (p.Glu132Asp)
ClinVar: 10171 https://www.ncbi.nlm.nih.gov/clinvar/variation/10171/
CAID: CA255060
gnomAD: MAF for Glu132Asp in Other population 0.0003762<br> https://gnomad.broadinstitute.org/variant/X-154221416-T-G?dataset=gnomad_r2_1
-
c.1291T>G
Case#: 41
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FIX:C 2/2% (Moderate Phenotype)
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F9
Variant: NM_000133.3:c.1291T>G (p.Trp431Gly)
ClinVar: NA
CAID: CA414447127
gnomAD: Not reported
-
c.580G>A
Case#: 44
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FIX:C 23% (Mild Phenotype)
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F9
Variant: NM_001313913.1:c.580G>A (p.Asp194Asn)
ClinVar: NA
CAID: CA414441211
gnomAD: Not reported
-
c.2043G>A
Case#: 16
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 31% (Mild Phenotype), No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, sample was blinded for NGS and the sequencing component was validated by comparing results with Sanger Sequencing
Gene: F8
Variant: NM_000132.3:c.2043G>A (p.Met681Ile)
ClinVar: NA
CAID: CA414909257
gnomAD: Not reported
Tags
- DiseaseEntity:FactorVIIIDeficiency
- Mutation:Nonsense
- CAID:CA414915176
- inferred_gene_source:hgnc_tag
- ClinVarID:10171
- Gene:F8
- FIXtesting:Partial
- HGNC:3551
- ClinGen Coag Fac Def VCEP
- CAID:CA414446997
- CAID:CA414909257
- ClinVarID:10266
- HGNC:3546
- CaseInfo
- CAID:CA255154
- CAID:CA414903435
- inferred_gene_hgnc:3551
- inferred_gene_hgnc:3546
- CAID:CA414447127
- Zygosity:NoZygosityAssertion
- FVIIItesting:Partial
- InheritancePattern:NoInheritanceAssertion
- ParentalTest:Unknown
- Gene:F9
- CAID:CA414441211
- CAID:CA255060
- General
- DiseaseEntity:FactorIXDeficiency
- CAID:CA414441179
- Mutation:Missense
Annotators
URL
-
-
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
-
A2. A3
Case#: A2, A3
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 4, FVIII:AG = 35, assay discrepancy present (OSA>CSA)
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
Gene: F8
Variant: NM_000132.4:c.881C>T
LegacyVariant:
ClinVar: No
CAID: CA255077
gnomAD:
-
B75
Case#: B75
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C Chr = 9, FVIII:AG = 10, inverse assay discrepancy present (OSA<CSA)
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
Gene: F8
Variant: NM_000132.4:c.5323T>G
LegacyVariant:
ClinVar: No
CAID: CA255159
gnomAD:
-
B76
Case#: B76
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C Chr = 7, FVIII:AG = 10, inverse assay discrepancy present (OSA<CSA)
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
Gene: F8
Variant: NM_000132.4:c.5398C>G
LegacyVariant:
ClinVar: No
CAID: CA255164
gnomAD:
-
B45 – B72
Case#: B45 - B72
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C Chr = 9, FVIII:AG = 16, inverse assay discrepancy present (OSA<CSA)
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: Coding region and intron/exon bound-aries of the F8 gene were amplified from all patient samples and directly sequenced using primers
Gene: F8
Variant: NM_000132.4:c.5096A>T
LegacyVariant:
ClinVar: No
CAID: CA255022
gnomAD:
Tags
- AssayDiscrepancy:OSA>CSA
- DiseaseEntity:FactorVIIIDeficiency
- inferred_gene_source:hgnc_tag
- Gene:F8
- ClinGen Coag Fac Def VCEP
- AssayDiscrepancy:OSA<CSA
- HGNC:3546
- CaseInfo
- Inhibitor:NotReported
- PreviousTesting:None
- DiseaseSeverity:MildHemophiliaA
- DiseaseSeverity:ModerateHemophiliaA
- CAID:CA255164
- inferred_gene_hgnc:3546
- CAID:CA255022
- Zygosity:NoZygosityAssertion
- InheritancePattern:NoInheritanceAssertion
- ParentalTest:Unknown
- CAID:CA255159
- FVIIItesting:Full
- Mutation:Missense
- CAID:CA255077
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification of a novel mutation in the factor VIII gene causing severe haemophilia A
PMID: 30083353
Gene: F8
HGNCID: 3546
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
c.3557delT
Case#: 5
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3:c.3561del
ClinVar: NA
CAID: CA873342537
gnomAD: Not reported
-
c.762A>G
Case#: 15, Spanish
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NA
ClinVar: NA
gnomAD: NA
-
C.6317A>C
Case#: 27
DiseaseAssertion: Hemophilia A
FamilyInfo: Positive
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3:c.6317A>C (p.Gln2087Pro)
ClinVar: NA
CAID: CA414900070
gnomAD: Not reported
-
c.1706C>G
Case#: 22
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3:c.1706C>G (p.Pro550Arg)
ClinVar: NA
CAID: CA414911701
gnomAD: Not reported
-
c.6135G>T
Case#: 9
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NA
ClinVar: NA
CAID: NA
gnomAD: NA
-
c.3093delAAGA
Case#: 4
DiseaseAssertion: Hemophilia A
FamilyInfo: Positive
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe, Inhibitors present
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3(F8):c.3091_3094del (p.Lys1031fs)
ClinVar: 369689 https://www.ncbi.nlm.nih.gov/clinvar/variation/369689/
CAID: CA645509240
gnomAD: Not reported
-
C.6301C>G
Case#: 26
DiseaseAssertion: Hemophilia A
FamilyInfo: Positive
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Mild
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3(F8):c.6301C>G (p.His2101Asp)
ClinVar: 804137 https://www.ncbi.nlm.nih.gov/clinvar/variation/804137/
CAID: CA414900220
gnomAD: Not reported
-
c.584T>C
Case#: 14, Spanish
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3:c.584T>C (p.Leu195Pro)
ClinVar: NA
CAID: CA414919399
gnomAD: Not reported
-
c.5286T>A
Case#: 25
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Moderate
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3:c.5286T>A (p.Phe1743Leu)
ClinVar: NA
CAID: CA414910973
gnomAD: Not reported
-
c.2766delC
Case#: 3
DiseaseAssertion: Hemophilia A
FamilyInfo: Positive
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Moderate
CasePreviousTesting: All 26 exons and exon-intron boundaries of the F8 gene were amplified using primers and PCR, analyzed by direct forward and reverse sequencing using a DNA sequencing kit
Gene: F8
Variant: NM_000132.3:c.2766del (p.Leu923Ter)
ClinVar: NA
CAID: CA923726358
gnomAD: Not reported
Tags
- DiseaseEntity:FactorVIIIDeficiency
- Mutation:Nonsense
- inferred_gene_hgnc:3546
- inferred_gene_source:hgnc_tag
- Zygosity:NoZygosityAssertion
- InheritancePattern:NoInheritanceAssertion
- Mutation:Frameshift
- CAID:CA414911701
- ParentalTest:Unknown
- CAID:CA414900220
- ClinVarID:369689
- Gene:F8
- UnregisteredVariant
- CAID:CA645509240
- ClinGen Coag Fac Def VCEP
- CAID:CA414900070
- CAID:CA414919399
- CAID:CA923726358
- CAID:CA414910973
- InheritancePattern:Xlinked
- HGNC:3546
- CaseInfo
- ClinVarID:804137
- CAID:CA873342537
- Mutation:Missense
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
UQU-HB4
Case#: UQU-HB4, Male, 6-months-old, Saudi Arabia
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe, PTT 60.1
CasePreviousTesting: Screened for all factor IX exons by capillary sequencing
Gene: F9
Variant: NM_000133.3(F9):c.1025C>T (p.Thr342Met)
ClinVar: 10607 https://www.ncbi.nlm.nih.gov/clinvar/variation/10607/
CAID: CA255381
gnomAD: Not reported
-
UQU-HB2
Case#: UQU-HB2, Male, 2-months-old, Saudi Arabia
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe, PTT 74.5, Disabled right knee
CasePreviousTesting: Screened for all factor IX exons by capillary sequencing
Gene: F9
Variant: NM_001313913.1:c.580G>A (p.Asp194Asn)
ClinVar: NA
CAID: CA414441211
gnomAD: Not reported
-
UQU-HA38
Case#: UQU-HA36, Male, 1-months-old, Saudi Arabia
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0001892 (Abnormal bleeding)
CaseHPOFreeText: Mild, FVIII: 1 to <5% (moderate HA) based on text
CasePreviousTesting: Screened for inversion 22 by inverse PCR, screened for inversion 1 by multiplexed PCR, capillary sequencing (Sanger method) was performed for factor VIII all 26 exons
Gene: F8
Variant: NM_000132.3:c.99G>T (p.Trp33Cys)
ClinVar: NA
CAID: CA414920529
gnomAD: Not reported
Tags
- DiseaseEntity:FactorVIIIDeficiency
- inferred_gene_hgnc:3546
- inferred_gene_source:hgnc_tag
- Zygosity:NoZygosityAssertion
- InheritancePattern:NoInheritanceAssertion
- FVIIItesting:Partial
- ParentalTest:Unknown
- Gene:F8
- Gene:F9
- HGNC:3551
- ClinVarID:10607
- ClinGen Coag Fac Def VCEP
- CAID:CA414441211
- DiseaseEntity:FactorIXDeficiency
- HGNC:3546
- CaseInfo
- CAID:CA414920529
- Mutation:Missense
- CAID:CA255381
- inferred_gene_hgnc:3551
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China
PMID: 25330515
Gene: F9
HGNCID: 3551
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Phase 1, single‐dose escalating study of marzeptacog alfa (activated), a recombinant factor VIIa variant, in patients with severe hemophilia
PMID: 30151972
Gene: F8
HGNC: 3546
NoEvidence: This article does not mention specific case reports with variants
-
-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
Fig. 1
Case#: 12 year old male
DiseaseAssertion: Hemophilia B, moderate
FamilyInfo: Mother was a carrier. Maternal uncle has the same hemizygous mutation
ParentalTesting: Family Pedigree reveals that the mother was a carrier of the variant identified in the proband
CasePresentingHPOs: HP:0011858, HP:0030839
CaseHPOFreeText: FIX:C = 1%, proband had a history of soft tissue hemorrhages since 7 years of age
CaseNotHPOs: NA
CaseNotHPOFreeText: NA
CasePreviousTesting: Direct nucleotide sequencing was completed
Gene: F9
Variant: NM_000133.3:c.157G>C
LegacyVariant:
ClinVar: No
CAID: CA414435729
gnomAD:
Tags
- Zygosity:Hemizygous
- inferred_gene_source:hgnc_tag
- CAID:CA414435729
- ParentalTest:Both
- FamilyInfo
- DiseaseSeverity:ModerateHemophiliaB
- Gene:F9
- FIXtesting:Partial
- HGNC:3551
- ClinGen Coag Fac Def VCEP
- AssayDiscrepancy:NotReported
- DiseaseEntity:FactorIXDeficiency
- PreviousTesting:Additional
- Inhibitor:NotReported
- Mutation:Missense
- inferred_gene_hgnc:3551
Annotators
URL
-
-
www-tandfonline-com.libproxy.lib.unc.edu www-tandfonline-com.libproxy.lib.unc.edu
-
New technologies in gene therapy for inducing immune tolerance in hemophilia A
PMID: 30345839
Gene: F8
HGNC: 3546
NoEvidence: This article discusses new technologies in gene therapy for inducing immune tolerance in hemophilia A, there are no case reports with variants mentioned in this article
-
-
-
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
PMID: 7550309
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
FIV3
FamilyLabel: Perrault_2012_Family_FIV
Family#PresentingHPOs: HP:0003593 (Infantile onset), HP:0000639 (Nystagmus), HP:0007663 (Reduced visual acuity)
Family#PresentingHPOFreeText: Staining of ciliary axonemes for acetylated alpha-tubulin detected an absence of cilia in a high percentage of cultured fibroblast cells, relative to control patients. Affected family members have been diagnosed with Mainzer-Saldino syndrome.
FamilyNotHPOs: HP:0001410 (Decreased liver function), HP:0012211 (Abnormal renal physiology)
FamilyNotHPOFreeText: IFT140 protein localization along the ciliary axoneme was unaffected in patient FIV3, however, two components of the anterograde transport IFT-B complex, IFT88 and IFT46, were aberrantly localized. They were evenly distributed along the cilium instead of primarily localized at the base and the tip of the cilium, suggesting an alteration in retrograde ciliary transport.
CountryOrigin: Saudi Arabia
Ethnicity: Not described.
Race: Not described.
Family#PreviousTesting: N/A
FamilyMethod1: Ciliome resequencing of a customized target enrichment library (consisting of 1,666 genes)
Family#Method2: Sanger sequencing of the 29 coding exons of IFT140.
Family#GenotypingMethod: The family was genotyped by ciliome resequencing of a customized target enrichment library (consisting of 1,666 genes), confirmed by Sanger sequencing of the 29 coding exons of IFT140
Affected: 3
Unaffected: 3
Segregations: 2 segregation were reported. The pedigree can be found in Figure S1. The family was described as consanguineous.
PublishedLOD: N/A
eLOD: 1.50
AddSegregationInfo: N/A
ProbandLabel: Perrault_2012_patient_FIV3
Variant: Affected individuals harbor the NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) variant in a homozygous state.
ClinVar: 31679
gnomAD: The NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) variant is present in gnomAD at a frequency of 0.00004031 in the African / African-American population (1/24806, with no homozygotes) https://gnomad.broadinstitute.org/variant/16-1614075-C-T
FamilyAddInfo: The parents of the affected family members are reportedly consanguineous (first cousins).
FamilyPMIDs: N/A
-
Affected individuals of the nonconsanguineous simplex FII
Case#: Perrault_2012_Patient_FII1, male, 18 years of age at time of study, ethnicity not specified
CasePresentingHPOs: HP:0003577 (Congenital onset), HP:0000639 (Nystagmus), HP:0025573 (Mild myopia), HP:0007994 (Peripheral visual field loss), HP:0007663 (Reduced visual acuity), HP:0007814 (Retinal pigment epithelial mottling), HP:0000608 (Macular degeneration), HP:0000550 (Undetectable electroretinogram), HP:0010164 (Cone-shaped epiphyses of the toes), HP:0003774 (Stage 5 chronic kidney disease), HP:0002153 (Hyperkalemia), HP:0000113 (Polycystic kidney dysplasia), HP:0000556 (Retinal dystrophy), HP:0001396 (Cholestasis), HP:0010230 (Cone-shaped epiphyses of the phalanges of the hand)
CaseHPOFreeText: Photoattraction was listed as a phenotype. Acetylated alpha-tubulin staining in cultured fibroblasts showed an absence of primary cilia in a high number of cells from this patient.
CaseNotHPOs: HP:0004322 (Short stature), HP:0000773 (Short ribs), HP:0000900 (Thickened ribs), HP:0000929 (Abnormal skull morphology), HP:0040064 (Abnormality of limbs), HP:0001263 (Global developmental delay), HP:0004979 (Metaphyseal sclerosis)
CaseNotHPOFreeText: N/A
CasePreviousTesting: N/A
CaseMethod1: Ciliome resequencing of a customized target enrichment library (consisting of 1,666 genes)
CaseMethod2: Sanger sequencing of the 29 coding exons of IFT140
CaseGenotypingMethod: The patient was genotyped by ciliome resequencing of a customized target enrichment library (consisting of 1,666 genes), confirmed by Sanger sequencing of the 29 coding exons of IFT140
Variant: The patient is a compound heterozygote harboring the NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) and NM_014714.4(IFT140):c.857_860del (p.Ile286LysfsTer6) variants in IFT140.
ClinVar: 31681
CAID: CA129888
gnomAD: Neither variant was found in gnomAD.
VariantEvidence: Exogenous expression of the FLAG-tagged p.Tyr311Cys variant in the RPE1 (retinal pigment epithelial) cell line revealed an inability to co-localize with gamma-tubulin, indicating a defect in localization to the basal body in most cells, although milder than another suspected pathogenic missense variant (Figure 3A). The p.Ile286LysfsTer6) variant is a frameshift variant in exon 8 of 31, introducing a premature stop codon predicted to trigger nonsense-mediated decay or at least disrupt the C-terminal 81% of the protein product.
CaseAddInfo: The proband's parents are reportedly non-consanguineous.
CasePMIDs: N/A
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
two
Case#: Meindl_1996_Family_RP07_Proband, male, age not specified, family origin either German or British
CasePresentingHPOs: HP:0000510 (Rod-cone dystrophy)
CaseHPOFreeText: The proband has been diagnosed with retinitis pigmentosa. Disease onset was reported as early.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: The family members previously underwent linkage analysis to map the underlying genetic cause to the region on chromosome Xp21.1 between the CYBB and OTC genes.
CaseMethod1: Hybridization analysis of amplified cDNA fragments from the RPGR locus to look for deletions, and SSCP analysis to look for point mutations
CaseMethod2: Sanger sequencing of the RPGR locus
CaseGenotypingMethod: The family members previously underwent linkage analysis to map the underlying genetic cause to the region on chromosome Xp21.1 between the CYBB and OTC genes. Amplified cDNA fragments from the RPGR locus were then screened by hybridization analysis to look for deletions and SSCP analysis to look for point mutations. The presence of the variant was confirmed by Sanger sequencing of the RPGR locus.
Variant: The affected family members harbor the NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter) variant in the hemizygous state.
ClinVar: 98747
gnomAD: The variant was not found in gnomAD v.2.1.1.
VariantEvidence: NM_001034853.2(RPGR):c.154G>T (p.Gly52Ter) is a nonsense variant predicted to trigger nonsense-mediated decay or to at least disrupt the C-terminal 94% of the protein product.
CaseAddInfo: The proband is a member of Family RP07.
CasePMIDs: N/A
-
-
www.nature.com www.nature.com
-
SFD pedigrees
FamilyLabel: Weber_1994_Family_M
Family#PresentingHPOs: HP:0011506 (Choroidal neovascularization), HP:0025094 (Disciform macular scar), HP:0007663 (Reduced visual acuity)
FamilyHPOFreeText: Choroidal neovascular invasion of the macula was bilateral. This occurred early in the presentation and led to the disciform scar and loss of central vision.
FamilyNotHPOs: N/A
CountryOrigin:
Family#PreviousTesting:
Family#GenotypingMethod: Sanger sequencing of Weber_1994_Family_M_patient_IV-2
Affected: 1
Unaffected: 1
Segregations: N/A
PublishedLOD:
eLOD: Insufficient information available
AddSegregationInfo: Absence of segregation info from the family is due to the fact that genotyping was limited to only the proband and one unaffected control.
ProbandLabel: Weber_1994_Family_M_patient_IV-2
Variant: NM_003490.4:c.711+5602T>C, p.Tyr191Cys
ClinVar: 12677
gnomAD: Variant is absent from gnomAD.
FamilyAddInfo: Variant was first referred to in PMID:7894485 as "Tyr168Cys" but encodes Tyr191Cys in the updated polypeptide sequence.
FamilyPMIDs: PMID:2000899
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-
link.springer.com link.springer.com
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We report two Italian siblings presenting in their mid-50s with difficulty in walking, dysarthria and progressive cognitive decline. Visual loss, ascribed to glaucoma, manifested a few years before the other symptoms. Brain MRI showed severe cerebellar atrophy, prevalent in the vermis, with marked cortical atrophy of both hemispheres. Exome sequencing identified a novel homozygous mutation (c.935G > A;p.Ser312Asn) in the ceroid neuronal lipofuscinosis type 5 gene (CLN5).
FamilyLabel: Mancini_2015_Family_ATA-7-TO
FamilyPresentingHPOs: HP:0003596 (Middle age onset), HP:0002355 (Difficulty walking), HP:0001260 (Dysarthria), HP:0001268 (Mental deterioration), HP:0000572 (Visual loss), HP:0001272 (Cerebellar atrophy), HP:0006855 (Cerebellar vermis atrophy), HP:0008278 (Cerebellar cortical atrophy), HP:0001251 (Ataxia), HP:0002317 (Unsteady gait), HP:0000639 (Nystagmus), HP:0001310 (Dysmetria), HP:0007350 (Hyperreflexia in upper limbs), HP:0002395 (Lower limb hyperreflexia)
FamilyPresentingHPOFreeText: Presentation was in the middle of the 6th decade of life.
FamilyNotHPOs: HP:0410280 (Pediatric onset), HP:0003474 (Somatic sensory dysfunction)
FamilyNotHPOFreeText: N/A
CountryOrigin: Italy (North-West)
Ethnicity: Italian
Race: Not mentioned
Family#PreviousTesting: Previous testing was limited to molecular tests ruling out Friedreich Ataxia and Spinocerebellar Ataxia types 1 and 2.
Family#Method1: N/A
Family#Method2: N/A
Family#GenotypingMethod: Whole exome sequencing of the proband and the affected sibling. Homozygosity was assumed due to the consanguinity of the family, contributing to the decision to focus on the variant in CLN5. This variant was confirmed by Sanger sequencing of PCR products from exon 4 of the CLN5 gene in both affected family members and an additional unaffected sibling. Parents were not subjected to genotyping.
Affected: 2
Unaffected: 1
Segregations: 1 segregation was reported, with none inconsistent (see pedigree in Figure 1A). The patient's family is consanguineous, with the parents being first cousins.
PublishedLOD: N/A
eLOD: N/A
AddSegregationInfo: N/A
ProbandLabel: Mancini_2015_Patient_III-5
Variant: The proband is homozygous for the NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) variant.
ClinVar: 183049 (homozygous)
gnomAD: The maximum allele frequency for the NM_006493.4(CLN5):c.788G>A (p.Ser263Asn) variant is 0.000008805 (in the European non-Finnish population, with no homozygotes). https://gnomad.broadinstitute.org/variant/13-77574815-G-A
FamilyAddInfo: N/A
FamilyPMIDs: N/A
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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retrospective study
Case#: Olivier_2021_Family_D_Proband_II:2, male, age 58 years at the time of report, national origin reported as Spanish
CasePresentingHPOs: HP:0007737 (Bone spicule pigmentation of the retina), HP:0007843 (Attenuation of retinal blood vessels), HP:0030629 (Perifoveal ring of hyperautofluorescence)
CaseHPOFreeText: The proband and his sibling have been diagnosed with autosomal recessive retinitis pigmentosa, with clinical signs in the fundus reportedly consistent with this diagnosis.
CaseNotHPOs: HP:0040049 (Macular edema), HP:0030500 (Yellow/white lesions of the macula)
CaseNotHPOFreeText: N/A
CasePreviousTesting: It is not clear whether previous testing methods included systematic genotyping of loci associated with VMD or RP.
CaseMethod1: Screening of IMPG1 using either gene panel testing or exome sequencing
CaseMethod2: Sanger sequencing-based confirmation
CaseGenotypingMethod: Genotyping is not entirely clear but has at least included panel-based analysis of the IMPG1 locus and Sanger sequencing-based confirmation.
Variant: The proband harbors the NM_001563.4(IMPG1):c.1875A>G (p.Ile625Met) variant in the homozygous state.
CAID: CA364775681
gnomAD: This variant is not found in gnomAD v2.1.1.
VariantEvidence: NM_001563.4(IMPG1):c.1875A>G (p.Ile625Met) is a missense variant that lacks evidence of a functional impact on the protein product.
CaseAddInfo: The patient's sister is similarly affected with the same homozygous genotype, while an unaffected sister harbored the variant in the heterozygous state. Parental consanguinity is not reported but family origin is from a small village.
CasePMIDs: N/A
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Isolation and characterization of cGMP phosphodiesterase from bovine rod outer segments
PMID: 227876
Gene: PDE6A
HGNC: 8785
Disease: retinitis pigmentosa 43
MONDO: MONDO:0013437
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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In this study, we reinvestigated a large, highly consanguineous Finnish family previously diagnosed as having early-onset autosomal recessive SFD.
FamilyLabel: Felbor_1997_Family_1
Family#PresentingHPOs: HP:0007663 (Reduced visual acuity), HP:0001089 (Iris atrophy), HP:0007703 (Abnormality of retinal pigmentation), HP:0000501 (Glaucoma)
FamilyHPOFreeText: Early onset of visual loss between the second and fourth decade of life, with the first sign in young family members being uneven or absent pigmentation in the extreme fundus periphery. Affected individuals experienced progressive vision loss, iris atrophy, and glaucoma in some cases.
FamilyNotHPOs: N/A
FamilyNotHPOFreeText: N/A
CountryOrigin: Finland
Family#PreviousTesting: Single-stranded conformational analysis (SSCA) of the coding and promoter regions of TIMP3, detecting a mobility shift in exon 5 that was specific to affected individuals. Sanger sequencing of PCR products from exon 5 of the TIMP3 gene, in samples from the proband and a control individual.
Family#GenotypingMethod: Enzymatic digestion of TIMP3 exon 5 PCR products with the HaeIII restriction endonuclease.
Affected: 9
Unaffected: 9
Segregations: 8
PublishedLOD: Maximum LOD score, Zmax, was reported as 3.03 (at theta = .001, for the D22S281 marker, previously linked to the TIMP3 locus in PMID:8919688)
eLOD: 2.4
AddSegregationInfo: N/A
ProbandLabel: Felbor_1997_Family_1_patient_III-4
Variant: Affected patients harbor the NM_000362.5(TIMP3):c.565G>T (p.Gly189Cys) missense variant.
ClinVar: 12679
gnomAD: Variant is absent from gnomAD.
FamilyAddInfo: This highly consanguineous family was previously proposed to show an autosomal recessive pattern of inheritance (not previously observed for Sorsby fundus dystrophy). The family has been genotyped for the first time in this study, revealing segregation of disease phenotypes with a heterozygous variant in TIMP3, with autosomal dominant inheritance.
FamilyPMIDs: PMID:7148944, PMID:2387082
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
PMID: 9448321
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
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journals.physiology.org journals.physiology.org
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Nyctalopin Expression in Retinal Bipolar Cells Restores Visual Function in a Mouse Model of Complete X-Linked Congenital Stationary Night Blindness
PMID: 17881478
Gene: NYX
HGNC: 8082
Disease: Congenital stationary night blindness 1A
MONDO: 0010690
InheritancePattern: X-linked recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.
Penetrance: Penetrance is thought to be complete.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain
PMID: 15207259
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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variant
Case#: Holmberg_Patient_2, male, age 3 at onset and age 12 at time of study, Finnish origin
CasePresentingHPOs: HP:0003208 (Fingerprint intracellular accumulation of autofluorescent lipopigment storage material), HP:0011463 (Childhood onset), HP:0001268 (Mental deterioration), HP:0000572 (Visual loss), HP:0001251 (Ataxia), HP:0002540 (Inability to walk), HP:0001250 (Seizure), HP:0000550 (Undetectable electroretinogram), HP:0012018 (EEG with temporal focal spikes), HP:0100952 (Enlarged sylvian cistern), HP:0006855 (Cerebellar vermis atrophy), HP:0002198 (Dilated fourth ventricle), HP:0033725 (Thin corpus callosum), HP:0030891 (Periventricular white matter hyperdensities), HP:0012690 (T2 hypointense thalamus), HP:0001312 (Giant somatosensory evoked potentials)
CaseHPOFreeText: Age of onset was 3, while mental decline was present at age 3 and both visual deterioration and giant flash visual evoked potentials at age 6. Abolished ERG was found at age 7, and ataxia at age 8. Seizures and Loss of independent walking occurred at age 9. Posterior EEG spikes in response to low-frequency photic stimuli were observed. T2-weighted images showed increased signal intensity of the periventricular white matter and posterior limb of the capsula interna. The thalamus had abnormally low signal intensity compared to the putamen, caudate nuclei, and white matter.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: Other than clinical phenotype characterization, it is not clear what genotype tests preceded CLN5 sequencing.
CaseMethod1: N/A
CaseMethod2: N/A
CaseGenotypingMethod: Each exon of CLN5 was PCR-amplified and Sanger sequenced in both directions.
Variant: The patient is homozygous for the NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) variant.
ClinVar: 2564 (homozygous)
gnomAD: The maximum allele frequency of the NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) variant is 0.0008137 (within the European Finnish population, with no homozygous occurrences). https://gnomad.broadinstitute.org/variant/13-77575052-CAT-C
VariantEvidence: NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer) is a recurring frameshift variant that is predicted to disrupt approximately 5% of CLN5 at the C-terminus and has been shown to disturb its localization to the lysosome (PMID:20052765).
CaseAddInfo: N/A
CasePMIDs: N/A
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www.jbc.org www.jbc.org
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In mice, however, a null mutation in the GC1 gene produces a cone dystrophy; the GC1–/– rods remain viable and responsive to light (18Yang R.B. Robinson S.W. Xiong W.H. Yau K.W. Birch D.G. Garbers D.L. J. Neurosci. 1999; 19: 5889-5897Crossref PubMed Google Scholar, 19Coleman J.E. Zhang Y. Brown G.A. Semple-Rowland S.L. Investig. Ophthalmol. Vis. Sci. 2004; 45: 3397-3403Crossref PubMed Scopus (39) Google Scholar).
ExperimentName: Updated phenotypes from homozygous Gucy2e mouse knockout model
NonHumanModel: Mus musculus
GeneAlteration: The mouse Gucy2e gene was disrupted by the introduction of a neomycin-resistance gene cassette into exon 5, resulting in a truncated protein lacking its transmembrane domain (PMID: 10407028). The effects of this knockout were studied in both heterozygous and homozygous states.
ModelPhenotype: HP:0030465 (Undetectable light-adapted electroretinogram), HP:0030483 (Reduced amplitude of dark-adapted bright flash electroretinogram a-wave), HP:0030469 (Abnormal dark-adapted electroretinogram), HP:0000479 (Abnormal retinal morphology)
HumanPhenotype: HP:0007663 (Reduced visual acuity), HP:0007688 (Undetectable light- and dark-adapted electroretinogram), HP:0007703 (Abnormality of retinal pigmentation)
ModelEvidence: This publication confirms previously-reported ERG abnormalities of rod and especially cone photoreceptors. The abnormal retinal morphology HPO term refers to abnormalities in the ultrastructure of the photoreceptor outer segment, which exhibited disorganization (Figures S2B, S2F, 8C, and 8E) and low GCAP1 and GCAP2 expression levels (Figures 5J and 5N), providing early signs of instability and degeneration.
ModelVariant: The mouse model disrupts the expression of the endogenous GC1 protein product but does not feature knock-in of a variant from a human patient.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP
PMID: 30622176
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
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iovs.arvojournals.org iovs.arvojournals.org
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Four-point linkage analysis gave a maximum lod score of approximately 7.6 at both D8S1769 and GATA101H09 in the large consanguineous family. Recombination events defined an interval of 8.7 cM between D8S1820 and D8S532 within which the gene must lie. This 8p11 locus (CORD9) is immediately distal to but distinct from the RP1 autosomal dominant RP (adRP) locus.
FamilyLabel: Danciger_2001_Family
Family#PresentingHPOs: HP:0011463 (Childhood onset), HP:0007663 (Reduced visual acuity), HP:0001141 (Severely reduced visual acuity), HP:0007994 (Peripheral visual field loss), HP:0000545 (Myopia), HP:0000483 (Astigmatism), HP:0000523 (Subcapsular cataract)
FamilyPresentingHPOFreeText: The affected family members have been diagnosed with severe cone-rod dystrophy segregating with an autosomal recessive mode of inheritance.
FamilyNotHPOs: N/A
FamilyNotHPOFreeText: N/A
CountryOrigin: Brazil
Ethnicity: Brazilian
Race: Not described
Family#PreviousTesting: Linkage mapping has been performed in affected and unaffected family members using short tandem repeat markers across the genome.
Family#Method1: Linkage mapping using short tandem repeat markers
Family#Method2: Haplotype analysis with markers within an 8-cM region of chromosome 8p11.
Family#GenotypingMethod: Linkage mapping has been performed in affected and unaffected family members using short tandem repeat markers across the genome, followed by haplotype analysis within the linkage region. A subsequent publication sequenced 10 out of 34 genes within the linkage region and found homozygous variants in ADAM9 in particular (PMID: 19409519).
Affected: 5
Unaffected: 7
Segregations: 7 segregations are shown by the pedigree in Figure 1.
PublishedLOD: 7.6 (associated with the D8S1769 and GATA101H09 short tandem repeat markers on chromosome 8p11)
eLOD: N/A
AddSegregationInfo: N/A
ProbandLabel: Danciger_2001_Family_Patient_A
Variant: The affected family members harbor the NM_003816.3(ADAM9):c.1130+1G>A variant in the homozygous state.
ClinVar: 6876
gnomAD: This variant was not found in gnomAD v2.1.1.
VariantEvidence: The NM_003816.3(ADAM9):c.1130+1G>A variant is predicted to disrupt a canonical splice site in intron 11.
FamilyAddInfo: The family is known to be consanguineous, with the parents of affected individuals being second cousins.
FamilyPMIDs: PMID: 19409519
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease
PMID: 38184646
Gene: PRPF4
HGNC: 17349
Disease: retinitis pigmentosa 70
MONDO: 0014400
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.
Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Visually impaired rhesus macaques show signs of achromatopsia.
ExperimentName: This macaque model harbors a homozygous loss-of-function variant in PDE6C.
NonHumanModel: Macaca mulatta
GeneAlteration: The model animals are homozygous for a missense variant, p.Arg565Gln, which is shown to cause a decrease in enzymatic activity.
ModelPhenotype: HP:0007663 (Reduced visual acuity, particularly in well illuminated settings where unaffected animals led them by the hand), HP:0001483 (Eye poking), HP:0030465 (Undetectable light-adapted electroretinogram), normal dark-adapted ERG, HP:0007401 (Macular atrophy), HP:0011504 (Bull's eye maculopathy), HP:0030619 (Reduced OCT-measured foveal thickness), HP:0030610 (Photoreceptor outer segment loss on macular OCT), HP:0030609 (Photoreceptor layer loss on macular OCT)
HumanPhenotype: HP:0030465 (Undetectable light-adapted electroretinogram), HP:0030534 (Abnormal best corrected visual acuity test), HP:0000551 (Color vision defect), HP:0000613 (Photophobia), HP:0000639 (Nystagmus), HP:0007401 (Macular atrophy), HP:0000545 (Myopia)
ModelEvidence: This is a naturally occurring macaque model that matches the autosomal recessive mode of inheritance from the human patients (Figure 7) and exhibits reduced visual acuity (Supplemental Video 1), lack of light-adapted ERG responses and normal dark-adapted ERG responses (Figures 1A-1E, Figure 2). The affected animals also exhibit progressive macular atrophy consistent with achromatopsia (Figure 3). Reduced foveal thickness was also observed (Figures 4A, 4B), as well as thinning of the outer nuclear layer and photoreceptor outer segments (Figures 5A, 5B).
ModelVariant: This model did not introduce a disease-associated variant known from an affected human patient, but rather studied a naturally occurring variant disrupting the PDE6C locus.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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In MOL0277, a homozygous intronic change (c.411-8A→G) was the only potentially pathogenic change identified. Sequence of cDNA derived from patients' peripheral blood lymphocyte mRNA demonstrated that this mutation activated a cryptic splice acceptor site giving rise only to an aberrant transcript (Figure 2B). The mutant transcript has seven additional base pairs of sequence added to the beginning of exon 6 and is predicted to introduce a frameshift resulting in premature termination (R137SfsX16).
Case#: Parry_2009_Family_MOL0277_patient_IV:2, male, age not specified, family origin reported to be Arab Muslim
CasePresentingHPOs: HP:0410280 (Pediatric onset), HP:0007663 (Reduced visual acuity), HP:0007401 (Macular atrophy), HP:0000580 (Pigmentary retinopathy), HP:0007769 (Peripheral retinal degeneration), HP:0008323 (Abnormal light- and dark-adapted electroretinogram)
CaseHPOFreeText: The proband was diagnosed with cone-rod dystrophy, with family showing autosomal recessive mode of inheritance. Most affected members of the proband's family had white patches around the optic disc and in the posterior pole.
CaseNotHPOs: HP:0000639 (Nystagmus), HP:0000613 (Photophobia)
CaseNotHPOFreeText: N/A
CasePreviousTesting: The proband and his family have been initially genotyped by autozygosity mapping with both 10k and 250k Affymetrix SNP arrays and microsatellite markers.
CaseMethod1: Autozygosity mapping
CaseMethod2: Sanger sequencing
CaseGenotypingMethod: The proband and his family have been initially genotyped by autozygosity mapping with both 10k and 250k Affymetrix SNP arrays and microsatellite markers. Sanger sequencing of the ADAM9 locus then identified the variants.
Variant: The proband harbors the NM_003816.3(ADAM9):c.411-8A>G variant in the homozygous state.
ClinVar: 6879
gnomAD: This variant was not found in gnomAD v2.1.1.
VariantEvidence: NM_003816.3(ADAM9):c.411-8A>G is a variant in intron 5 that has been shown to trigger aberrant splicing and abolish normal splicing by activating use of a cryptic splice acceptor site (Figure 2B). The predicted result is to add 7 bp to the 5' end of exon 6 and introduce a frameshift causing premature termination. Since this affects exon 6 of 21, the predicted result is nonsense-mediated decay or truncation of the C-terminal 83% of the protein product (p.Arg137SerfsX16).
CaseAddInfo: The proband's family is known to be consanguineous, with the parents being first cousins (pedigree shown in Figure 2).
CasePMIDs: N/A
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www.sciencedirect.com www.sciencedirect.com
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The retinal pigment epithelium in Sorsby Fundus Dystrophy shows increased sensitivity to oxidative stress-induced degeneration
PMID: 32828705
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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65 + 5G-->A
Case#: Gu_1997_Patient_arRP181-II-1, female, 45, German ethnicity
CasePresentingHPOs: HP:0000662 (Nyctalopia), HP:0000572 (Visual loss), HP:0410280 (Pediatric onset), HP:0000546 (Retinal degeneration), HP:0000618 (Blindness)
CaseHPOFreeText: Visual loss had onset in childhood. Retinal degeneration was diagnosed at age 10. Legal blindness was found at age 18.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: Previous testing was limited to clinical diagnosis of arRP.
CaseMethod1: PCR amplification and Sanger sequencing
CaseMethod2: N/A
CaseGenotypingMethod: RPE65 was subjected to PCR amplification and Sanger sequencing.
Variant: The patient is homozygous for the NM_000329.3(RPE65):c.11+5G>A variant.
ClinVar: 98825 (homozygous)
gnomAD: The maximum allele frequency of the NM_000329.3(RPE65):c.11+5G>A variant is 0.0001626 (in the European non-Finnish population, with no homozygotes): https://gnomad.broadinstitute.org/variant/1-68915573-C-T
VariantEvidence: The variant is located within intron 1 of the RPE65 transcript and affects part of the splice donor consensus sequence. SpliceAI calculates a delta score of 0.06 for loss of splice donor site.
CaseAddInfo: Consanguinity of the parents is not proven but considered possible due to their origin from the same village. One of the patient's three siblings is affected (similarly or more severely), but none have been genotyped.
CasePMIDs: N/A
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www.nature.com www.nature.com
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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
PMID: 7647783
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
PMID: 23281133
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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novel mutation
Case#: Corton_2010_Family_RP-72_patient_IV:2, male, age 35 years at time of study, age 6 at onset, Spanish family origin from Galicia
CasePresentingHPOs: HP:0000662 (Nyctalopia), HP:0000540 (Hypermetropia), HP:0007663 (Reduced visual acuity), HP:0030526 (Severe constriction of peripheral visual field), HP:0000550 (Undetectable electroretinogram), HP:0007737 (Bone spicule pigmentation of the retina), HP:0007401 (Macular atrophy), HP:0007843 (Attenuation of retinal blood vessels), HP:0000543 (Optic disc pallor)
CaseHPOFreeText: The proband and his affected family members have been diagnosed with autosomal recessive retinitis pigmentosa.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: Haplotype analysis was initially performed in the patient and his affected family members.
CaseMethod1: Haplotype analysis
CaseMethod2: Sanger sequencing of PDE6A, PDE6B, and RHO
CaseGenotypingMethod: Haplotype analysis was initially performed in the patient and his affected family members, showing shared regions of homozygosity in the PDE6A, PDE6B, and RHO genes. Sanger sequencing was then performed on PCR products of exons and flanking regions from these three loci.
Variant: The proband harbors the NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) variant in the homozygous state.
ClinVar: 29874
gnomAD: In gnomAD v2.1.1, NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) has a frequency of 0.00008531 (11/128938) in the European non-Finnish population, with 0 homozygotes https://gnomad.broadinstitute.org/variant/5-149263074-C-T
VariantEvidence: A mutation equivalent to this variant in the homozygous nmf28/nmf28 mouse model caused grainy abnormalities in fundus pigmentation associated with loss of most photoreceptor cells shortly after birth, as well as loss of cGMP-PDE6 activity resulting in increased intracellular cGMP levels (PMID: 18849587).
CaseAddInfo: The proband is from a family with multiple consanguineous unions and three affected paternal aunts.
CasePMIDs: N/A
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Next-Generation Sequencing–Based Molecular Diagnosis of a Chinese Patient Cohort With Autosomal Recessive Retinitis Pigmentosa
PMID: 23661369
Gene: ADAM9
HGNC: 216
Disease: cone-rod dystrophy 9
MONDO: MONDO:0013002
InheritancePattern: autosomal recessive
Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.
Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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In the IMPG2 mutant, a 7 nt deletion in exon 3 led to a premature termination on the same exon. In both cases, we expected nonsense-mediated decay and consequent loss of IMPG1 and IMPG2 proteins (Fig. 2A). The IHC analysis confirmed the absence of IMPG1 or IMPG2 proteoglycans in IMPG1 and IMPG2 KO mice, respectively.
ExperimentName: CRISPR/Cas9-based disruption of mouse Impg2
NonHumanModel: Mus musculus
GeneAlteration: Model animals were subjected to CRISPR/Cas9-based deletion of 7bp from exon 3 of Impg2, and analyzed in the homozygous state. Absence of Impg2 signal was confirmed by immunofluorescent staining. Mice were studied at ages 5 months and 8 months.
ModelPhenotype: HP:0030612 (Abnormal retinal morphology, specifically mislocalization / scattering of IMPG1 throughout the outer segment and at the boundary with the RPE), HP:0030643 (Vitelliform-like subretinal lesions), HP:0000654 (Decreased light- and dark-adapted electroretinogram amplitude)
HumanPhenotype: HP:0000529 (Progressive visual loss), HP:0000662 (Nyctalopia), HP:0000551 (Color vision defect), HP:0008002 (Abnormality of macular pigmentation), HP:0000543 (Optic disc pallor), HP:0007843 (Attenuation of retinal blood vessels), HP:0000533 (Chorioretinal atrophy), HP:0000518 (Cataract), HP:0008323 (Abnormal light- and dark-adapted electroretinogram), HP:0007737 (Bone spicule pigmentation of the retina), HP:0007994 (Peripheral visual field loss), HP:0000603 (Central scotoma)
ModelEvidence: This is the first mouse model of Impg2 disruption, with confirmed absence of Impg2 in the homozygous animals. Abnormalities included mislocalization of Impg1 and the cone-specific marker Pna (Figure 2), accumulation of anomalous material between the photoreceptor outer segment and RPE (Figure 3), development of subretinal hyper-reflective vitelliform lesions (Figure 4), and reduction in the amplitudes of ERG responses from both rods (Figure 5A) and cones (Figure 5B).
ModelVariant: The model does not introduce a variant previously observed in human patients, but rather disrupts the expression of the Impg2 ortholog.
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www.nature.com www.nature.com
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Sequence of a patient carrying the CLN5 Fin major mutation, (AT)2467 deletion.
Case#: Savukoski_Fin_Major_Patient_1, no demographic details, Finnish origin
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: Previous testing relied on linkage analysis using PCR-amplifiable polymorphisms, including microsatellite markers. The marker D13S160 was found to co-segregate with disease with a LOD score of 4.78 across 14 Finnish pedigrees, mapping the disease locus to chromosome 13q21.1-q32 (PMID:7942847). A follow-up study used two additional microsatellite markers to map the locus to a 200-kb region (PMID:8661106), which was then analyzed in the present study and found to contain a single coding gene.
CaseMethod1: Linkage analysis using PCR-amplifiable polymorphisms, including microsatellite markers, followed by more detailed linkage analysis using two additional microsatellite markers to map the locus to a smaller 200-kb region (PMID:8661106).
CaseMethod2: N/A
CaseGenotypingMethod: PCR products from the four exons of CLN5 were generated from the affected individual and a control individual and subjected to Sanger sequencing. Genome-wide analysis methods were not used.
Variant: Patient is homozygous for NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer), although this variant is referred to in the article as (AT)2467del.
ClinVar: 2564
gnomAD: The variant is reported to have a maximum allele frequency of 0.0008137 (in the European Finnish population, with no homozygous individuals). https://gnomad.broadinstitute.org/variant/13-77575052-CAT-C
VariantEvidence: This frameshift variant is expected to truncate 16 amino acids from the C-terminus of CLN5 (between 4-5% of the total polypeptide), without triggering NMD. However, it abolishes an N-glycosylation site (PMID:24058541). This may explain why it fails to localize to large endosomes but rather is retained within the ER, possibly indicating improper folding (PMID:24058541). It also exhibits reduced stability relative to other variants (PMID:24058541).
CaseAddInfo: N/A
CasePMIDs: PMID:7942847, PMID:8661106
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iovs.arvojournals.org iovs.arvojournals.org
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The Benign Concentric Annular Macular Dystrophy Locus Maps to 6p12.3-q16
PMID: 14691150
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Eyes shut homolog (EYS) interacts with matriglycan of O-mannosyl glycans whose deficiency results in EYS mislocalization and degeneration of photoreceptors
PMID: 32385361
Gene: EYS
HGNC: 21555
Disease: Retinitis pigmentosa 25
MONDO: MONDO:0011272
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.
Penetrance: The disease appears to be completely penetrant among published families.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse
PMID: 1992463
Gene: PRPH2
HGNC: 9942
Disease: retinitis pigmentosa 7
MONDO: 0011974
InheritancePattern: semi-dominant
Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).
Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa
PMID: 21051334
Gene: PRPF4
HGNC: 17349
Disease: retinitis pigmentosa 70
MONDO: 0014400
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.
Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).
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www.jbc.org www.jbc.org
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Interactions within the Coiled-coil Domain of RetGC-1 Guanylyl Cyclase Are Optimized for Regulation Rather than for High Affinity
PMID: 11306565
Gene: GUCY2D
HGNC: 4689
Disease: Cone-rod dystrophy 6
MONDO: 0011143
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.
Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.
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