Compensation of the AKT signaling by ERK signaling in transgenic mice hearts overexpressing TRIM72
PMID: 23567182
Gene: MYH7
HGNC: 7577
TRIM72 expression
2,172 Matching Annotations
- Oct 2026
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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www.sciencedirect.com www.sciencedirect.com
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Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
PMID: 32361481
Gene: MYH7
HGNC: 7577
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
PMID: 23478172
Gene: MYH7
HGNC: 7577
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www.nature.com www.nature.com
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Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment
PMID: 24113344
Gene: MYH7
HGNC: 7577
This study sought to reassess single-nucleotide variant classification in hypertrophic cardiomyopathy probands. a total of 136 unrelated hypertrophic cardiomyopathy probands had genetic testing, of which 63 (46%) carried at least one pathogenic mutation. MYBPC3 (n = 34; 47%) and MYH7 (n = 23; 32%)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Pearls & Oy-sters: Clues to the diagnosis of adult-onset acid maltase deficiency
PMID: 24590251
Gene: GAA
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www-nature-com.libproxy.lib.unc.edu www-nature-com.libproxy.lib.unc.edu
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84
Case#: 84, Gender N/A, 6 months old when diagnosed, Asian
DiseaseAssertion: Pompe disease
FamilyInfo: Both parents were tested for variants in GAA
CasePresentingHPOs: N/A
CaseHPOFreeText:N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient did not present any symptoms, diagnosed was made based on the predicted impact of the variant by PolyPhen-2
CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.
Dried Blood spot test found an GAA activity of 3.8 pmol/h/disk with a reference value of 6.5 pmol/h/disk
enzyme activity in fibroblast was recorded to be 3.0 nmol/h/mg protein.
Variants: Variant1: (Two mutated alleles with heterozygous mutations)
Variant1.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
ClinVar: 346310
CAID: CA8815007
gnomAD: Highest population MAF = 0.002234 (East Asian)
Variant1.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
ClinVar: 330447
CAID: CA8815009
gnomAD: Highest popu;ation MAF= 0.002235 (East Asians)
Variant2: C.1244C>T
ClinVar: N/A
CAID: N/A
gnomAD: N/A
ParentalGenotype: The c.752C>T+c.761C>T and c.1244C>T of subject ID 84 were derived from mother and father, respectively
PreviouslyPublished:N/A
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93
Case#: 93, gender N/A, 6months old when diagnosed, Asian
DiseaseAssertion: Pompe disease
FamilyInfo: Both parents were carriers of mutations in the GAA gene. The patient inherited the mutations.
CasePresentingHPOs: N/A
CaseHPOFreeText: Symptoms were noted at the age of 2.7 months old
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient showed no symptoms but LOPD was diagnosed based on the predicted impact of the variants by PolyPhen-2
CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.
Dried Blood spot test found an GAA activity of 0.25 pmol/h/disk with a reference value of 6.5 pmol/h/disk
Variant1: NM_000152.5(GAA):c.317G>A (p.Arg106His)
ClinVar: 286481
CAID: CA8814849
gnomAD: MAF=0.0001094 in East Asian
Variant2: (COMBINATION OF MUTATIONS IN THIS ALLELE, DOUBT HERE)
Variant2.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
ClinVar: 346310
CAID: CA8815007
gnomAD: Highest population MAF = 0.002234 (East Asian)
Variant2.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
ClinVar: 330447
CAID: CA8815009
gnomAD: Highest population MAF= 0.002235 (East Asians)
ParentalGenotype: Father is heterozygous for c.317G>A (p.Arg106His).
Mother carries both mutations of c.[752C>T,761C>T].
PreviouslyPublished:N/A
Tags
- ClinVarID:286481
- InheritancePattern:AutosomalRecessive
- PreviousTesting:GAAmeasurement
- ClinVarID:330447
- HGNC:4065
- CAID:CA8814849
- CAID:CA8815007
- CaseInfo
- CAID:CA8815009
- Zygosity:CompoundHeterozygous
- Gene:GAA
- inferred_gene_hgnc:4065
- inferred_gene_source:hgnc_tag
- ClinVarID:346310
- DiseaseEntity:PompeDisease
- GAA variant
- Individual
- gene: GAA
Annotators
URL
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy
PMID: 30770309 Gene: GAA
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link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
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Case 2A 50-day-old male infant was diagnosed with IOPD (Table 1)
Case#: Case 2, male, 50 days old when diagnosed, ethnicity unknown
DiseaseAssertion: Pompe disease
FamilyInfo: N/A
CasePresentingHPOs: HP:0001638, HP:0001252, HP:0000282 (cardiomyopathy, muscular hypotonia, facial edema)
CaseHPOFreeText:(Associated to Pompe disease) increased serum CK.
CaseHPOFreeText: (Infussion associated reactions) Generalized rash, cough and bronchospasm
CaseNotHPOs: N/A
CaseNotHPOFreeText: Infusion associated reactions are not associated with an IgE mediated mechanism.
CasePreviousTesting: See Table 1 for reports on GAA metabolic activity.
GAA activity in dried blood spots is 0 μmol/l/h with a reference range of 1.86–21.9 μmol/l/h
GAA activity on lymphocytes is 0.5 nmol 4 Mu/mg prot/h with a reference range of 21.4 ± 6.2 nmol 4 Mu/mg prot/h
Variant: c1124G>T (p.R375L)
ClinVar: N/A
CAID: N/A
gnomAD: N/A
ParentalGenotype: N/A
PreviouslyPublished: N/A
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
PMID: PMC7780922
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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watermark.silverchair.com watermark.silverchair.com
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Competition between normal [674C] and mutant [674R]GPIIb subunits: role ofthe molecular chaperone BiP in the processing of GPIIb-IIIa complexes
PMID: 11313253
Gene: ITGA2B
HGNC: 6138
PreviouslyPublished: PMID: 9920835
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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A novel Phe171Cys mutation in integrin αIIb causes Glanzmann thrombasthenia by abrogating αIIbβ3 complex formation
PMID: 15219201
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
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Ultrastructural analysis of the distribution of the vitronectinreceptor (avb3) in human platelets and megakaryocytes revealsan intracellular pool and labelling of thea-granule membrane
PMID: 9074427
Gene: ITGA2B
HGNC 6156
PreviouslyPublished:The proband in this article is from PMID: 2180491 and the variant this proband has is from PMID: Not available, (Bourre et al. 1990)
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Severe Intestinal Bleeding in a Woman with Glanzmann Thrombasthenia
PMID: 30756012
Gene: ITGA2B and/or ITGB3 (Patient has GT; therefore, these two genes may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented here; however, no mention of variants in ITGA2B or ITGB3.
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reader.elsevier.com reader.elsevier.com
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STUDIES OF THE PLATELET FIBRINOGEN RECEPTOR IN GLANZMANN PATIENTS AND UREMIC PATIENTS
PMID: 1412224
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions 2 Glanzmann thrombasthenia patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in the patients. The purpose of this study was to investigate fibrinogen binding to the platelet receptor in normal subjects, patients with GT, and carriers of this disorder, s well as in patients with chronic uremia before and after treatment with recombinant erythropoiten.
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journals.sagepub.com journals.sagepub.com
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Glanzmann’s Thrombasthenia: AnOverview
PMID: 18930954
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article summarizes Glanzmann thrombasthenia (GT); however, there is no mention of GT probands with variants in ITGA2B and/or ITGB3; therefore there is no evidence for our purpose
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Local file Local file
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Novel mutations of integrinaIIb andb3 genes in Turkish children withGlanzmann’s thrombasthenia
PMID: 25734216
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 20 GT patients and variants in ITGA2B and ITGB3, which these patients harbor. However, the variants are not specific to the patient, the article has just listed a table of the variants not identifying them with their respective patients
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Sustained engraftment post bone marrow transplant despite anti‐platelet antibodies in Glanzmann thrombasthenia Veronica H. Flood MD Corresponding Author E-mail address: floodv@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author F. Leonard Johnson MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Lynn K. Boshkov MD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Gregory A. Thomas MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Diane J. Nugent MD Division of Hematology, Children's Hospital of Orange County, Orange, CaliforniaSearch for more papers by this author Antony C. Bakke PhD Department of Pathology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author H. Stacy Nicholson MD, MPH Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author David Tilford MD Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonSearch for more papers by this author Mary P. Brown MD Central Oregon Pediatrics, Bend, OregonSearch for more papers by this author Kamar T. Godder MD, MPH Corresponding Author E-mail address: godderk@ohsu.edu Pediatric Stem cell Transplant Program, Division of Pediatric Hematology/Oncology, Oregon Health & Science University, Portland, OregonDivision of Pediatric Hematology/Oncology, CDRCP, Oregon Health and Science University, 3181 SW Sam Jackson Park Road, Portland, OR 97239.===Search for more papers by this author
PMID: 15768382
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 3 probands with Glanzmann thrombasthenia; however, there is no mention of these probands bearing variants in ITGA2B and/or ITGB3; therefore, we have insufficient evidence
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Local file Local file
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Demonstration of a marked reduction in the amount of GPIIb in most type I1 patients with Glanzmann’s thrombasthenia
PMID: 7947235
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article employees a sensitive immunoblot assay, where researchers characterized thrombasthenic platelets from 11 GT patients. There are no specific case reports of these patients, or mention of specific variants in ITGA2B/ITGB3 which these patients harbor, therefore there is insufficient evidence
PreviouslyPublished: Molecular defects in some of these patients has been demonstrated in these articles: Burk et al. 1991; Newman et al, 1991: Kato et al, 1992: Gu et al. 1993
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A Leu55to Pro substitution in the integrinaIIbis responsiblefor a case of Glanzmann’s thrombasthenia
PMID: 12181054
Gene: ITGA2B
HGNC: 6138
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Evaluation of rFVIIa (NovoSeven) in Glanzmann patients with thromboelastogram
PMID: 18070065
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: Glanzmann thrombasthenia patients are mentioned in this article; however, variants in ITGA2B and/or ITGB3 are not mentioned in patients
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www.thieme-connect.com www.thieme-connect.com
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Immunisation against IIb3 and v3 in a type 1 variant of Glanzmann’s thrombasthenia caused by a missense mutation Gly540Asp on 3
PMID: 27098940
Gene: ITGB3
HGNC: 6156
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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A mutation in the β3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of αIIbβ3 to an active state
PMID: 22136613
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, no individual probands are mentioned
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www.tandfonline.com www.tandfonline.com
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Classification of Iranian patients with Glanzmann's Thrombasthenia using a flow cytometric method
PMID: 21526886
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention individual probands with variants in ITGA2B and ITGB3; however, the article mentions a cohort of GT patients.
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clinchem.aaccjnls.org clinchem.aaccjnls.org
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A 3-Year-Old Girl with Frequent Nose Bleeds
PMID: 23624894
Gene: ITGA2B
HGNC: 6138
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Rapid Heterozygote Detection in Glanzmann's Thrombasthenia
PMID: 9576183
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
InsufficientEvidence: This article mentions several patients with GT; however, no variants in ITGA2B and/or ITGB3 therefore we have insufficient evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Ser-752->Promutationinthecytoplasmicdomainofintegrin.83subunitanddefectiveactivationofplateletintegrinaIlbP3(glycoproteinlib-Illa)inavariantofGlanzmannthrombasthenia
PMID: 1438206
Gene: ITGB3
HGNC: 6156
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watermark.silverchair.com watermark.silverchair.com696.pdf1
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A Defect of Platelet Aggregation Associated With an Abnormal Distribution of Glycoprotein IIb-IIIa Complexes Within the Platelet: The Cause of a Lifelong Bleeding Disorder
PMID: 1638023
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Use of autologous platelet‐rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders
PMID: 21323803
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a 60 year old Glanzmann thrombasthenia proband with missense mutations in ITGA2B; however, article does not have data for what mutations the proband has
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Occurrence of thrombosis in congenital thrombocytopenic disorders: a critical annotation of the literature.
PMID: 23037321
Gene: ITGB3
HGNC: 6156
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www.tandfonline.com www.tandfonline.com
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Platelet function tests using plateletaggregometry: need for repetition of the test fordiagnosis of defective platelet function
PMID: 14602548
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is mentions a cohort of 497 patients referred to their laboratory from all over Mumbai for investigation of spontaneous mucocutaneous bleeding. 61 of these patnets had Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in these patients therefore there is insufficient evidence
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reader.elsevier.com reader.elsevier.com
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Characterization of a new hereditary thrombopathy in a closed colony of Wistar rats
PMID: 8960644
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report. This study identifies and partially characterizes an inherited thrombopathy in a closed colony of Wistar rats.
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www.sciencedirect.com www.sciencedirect.com
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Variant type Glanzmann thrombasthenia caused by homozygous p.724R > X mutation in β3 integrin
PMID: 20106508
Gene: ITGB3
HGNC: 6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report
PMID: 30534006
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, these two genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with acquired Glanzmann thrombasthenia presented here; however, no mention of any variants therefore insufficient evidence
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journals.sagepub.com journals.sagepub.com
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Characterization of the cDNA Encoding αIIb and β3 in Normal Horses and Two Horses with Glanzmann Thrombasthenia
PMID: 16407493
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a variant in ITGA2B/ITGB3 however in horses not humans
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ashpublications-org.libproxy.lib.unc.edu ashpublications-org.libproxy.lib.unc.edu
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Platelet Prothrombinase Activity and Intracellular Calcium Responses in Patients With Storage Pool Deficiency, Glycoprotein IIb-IIIa Deficiency, or Impaired Platelet Coagulant Activity — A Comparison With Scott Syndrome
PMID: 9057642
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions GT patients that have been previously reported; however, this article does not mention any specific GT case reports with variants in ITGA2B and/or ITGB#
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
PreviouslyPublished: PMIDs: 8329704 and 2935207
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A nonsense mutation in the GPIIb heavy chain(Ser 870!stop) impairs platelet GPIIb–IIIa expression
PMID: 8904900
Gene: ITGA2B
HGNC: 6138
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann's thrombasthenia: report of a case and review of the literature
PMID: 20490335
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a Peurto Rican female with GT; however, no variants in ITGA2B or ITGB3 are reported in this patient
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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REPERTOIRE CLONING OF A HUMAN Molecular Immunology, Vol. 32, No. 9, pp. 613-622, 1995 Copyright 0 1995 Elsevier Science Ltd Printed in Great Britain. All rights reserved 0161~5890/95 $9.50 + 0.00 IgG INHIBITOR OF a,,& FUNCTION. THE OG IDIOTYPE
PMID: 7543974
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT proband; however, no variants in ITGA2B and/or ITGB3 are mentioned in this proband
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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The Journal of Emergency Medicine, Vol 14, No 3. pp 29Y-303. 1996 Copyright 0 1996 Elsevier Science Inc. Printed in the USA. All rights reserved 0736.4679N6 $lS.On -a- .O
PMID: 8782023
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
Note: Hypothes.is would not let me highlight the title of the article so I highlighted the journal
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA.
PMID: 8471765
Gene: ITGB3
HGNC 6156
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Local file Local file
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Serine 752 in the Cytoplasmic Domain of the p3 Integrin Subunit Is not Required for avp3 Postreceptor Signaling Events
PMID: 8870971
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions a variant in ITGA2B; however, there are no new case reports in this article. There is a previously published patient with the variant of interest, which has been tagged.
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reader.elsevier.com reader.elsevier.com
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GLYCOPROTEIN h/Ha-MEDIATED ACTIVATION-DEPENDENT PLATELET ADHESION TO COLLAGEN
PMID: 1579893
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they developed an assay method of platelet adhesion to collagen in which citrated platelet rich plasma could be used as well as washed platelets in the presence of anti GPIIb/IIIa monoclonal antibody. Here, they provided the first direct evidence that the activation depended platelet adhesion to collagen is induced by ADP and that this adhesion is also mediated by GPIa/IIa.
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Dissociation between fibrinogen and fibrin interaction with platelets in patients with different subtypes of Glanzmann's thrombasthenia: studies in an ex vivo perfusion chamber model
PMID: 12472580
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article does not mention any new case reports of GT; however, there are previously published probands mentioned in this article; therefore, there is insufficient evidence.
PreviouslyPublished: PMID: 2180491, 9226191, 3818957, 7509233
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www.tandfonline.com www.tandfonline.com
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A unique combination of inhibitory and partially activating mutations inb3 of a patient with variant-type Glanzmann thrombasthenia
PMID: 20438394
Gene: ITGB3
HGNC:6156
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations
PMID: 29439184
Gene: ITGB3
HGNC: 6156
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DDAVP infusion can modify VASP phosphorylation in humanplatelets
PMID: 15102025
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions "a platelet defect as a heterozygous Glanzmann thrombasthenia" however unable to access the article they cited after that sentence to get further information on the heterozygous variant
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin
PMID: 20492470
Gene: ITGA2B
HGNC: 6138
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www.ahajournals.org www.ahajournals.org
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Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein αIIbβ3 (GPIIb/IIIa) and αvβ3 Receptors Are Not Protected From Atherosclerosis
PMID: 11877352
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients and 2 variants in ITGA2B and/or ITGB3 that have been seen in these patients; however, there is no direct correlation for which patients harbor which variant; therefore there is insufficient evidence
"Five were homozygous for the 11-bp deletion in the β3 gene11 and 2 were homozygous for a splice site mutation of the αIIb gene"
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reader.elsevier.com reader.elsevier.com
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Molecular basis ofGlanzmann’sThrombasthenia andcurrent strategies intreatment
PMID: 12163005
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article is a review on GT.
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients E. J. R. NELSON Departments of HematologySearch for more papers by this author S. C. NAIR Clinical Pathology, Christian Medical College, Vellore, IndiaSearch for more papers by this author H. PERETZ Clinical Biochemistry Laboratory, Tel Aviv Sourasky Medical Center, Tel‐Aviv, IsraelSearch for more papers by this author B. S. COLLER Laboratory of Blood and Vascular Biology, The Rockefeller University, New York, NY, USASearch for more papers by this author U. SELIGSOHN Institute of Thrombosis and Hemostasis, The Chaim Sheba Medical Center, Tel‐Hashomer, IsraelSearch for more papers by this author M. CHANDY Departments of HematologySearch for more papers by this author A. SRIVASTAVA Departments of HematologySearch for more papers by this author
PMID: 16879215
Gene: ITGA2B and ITBG3
HGNC: 6138 and 6156
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Local file Local file
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Independent adjudicator assessments of platelet refractorinessand rFVIIa efficacy in bleeding episodes and surgeries from themultinational Glanzmann’s thrombasthenia registry
PMID: 28370369
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: No GT probands or variants within ITGA2B or ITGB3 mentioned in this article
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www.indianpediatrics.net www.indianpediatrics.net
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Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor VLeiden and Heterozygous MTHFR C677T Gene Mutations
PMID: 30819996
Gene: ITGA2B and/or ITGB3 (Proband has GT; therefore, one of these variants may be implicated)
HGNC: 6138 and 6156
InsufficientEvidence: Case report presented in this article with Glanzmann thrombasthenia; however, sequencing reveals differential diagnosis to GT, with mutations in other genes.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Acquired Glanzmann's thrombasthenia caused by glycoprotein IIb/IIIa autoantibodies of the immunoglobulin G1 (IgG1), IgG2 or IgG4 subclass: a study in six cases.
PMID: 19138263
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, no mention of variants in ITGA2B and/or ITGB3
Note: Full-text found on UNC library website-- was not able to annotate on that document therefore annotation found here
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www.thieme-connect.com www.thieme-connect.com
-
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations
PMID: 25373348
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
-
Acquired Glanzmann’s Thrombasthenia Associatedwith Hodgkin’s Lymphoma
PMID: 9576300
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.nature.com www.nature.com
-
Bone marrow transplantation in severe Glanzmann's thrombasthenia with antiplatelet alloimmunization
PMID: 10673707
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence
-
-
www.tandfonline.com www.tandfonline.com
-
PMA induces platelet activation of specificantigens (CD62/CD63) in GpIIb-IIIa deficientplatelets from Glanzmann's thrombasthenia
PMID: 16793673
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions individuals with Glanzmann thrombasthenia; however, the probands don't have variants in ITGAB and/or ITGB3 mentioned
-
-
link.springer.com link.springer.com
-
Identification of Clinicopathological Spectrum, Platelet Glycoprotein IIb/IIIa complex and Platelet Antibodies in Egyptian Children with Glanzmann’s Thrombasthenia
PMID: 28161816
Gene: ITGA2B and ITGB3
HGNC 6138 and 6156
NoEvidence: The aim of this article's study was to evaluate the clinicopathological spectrum of this syndrome and to study the platelet glycoprotein IIb/IIIa complex and platelet antibodies by flow cytometry in a cohort of children with GT in a tertiary care center in Upper Egypt. There is no mention of individual probands with variants in ITGA2B or ITGB3
-
-
Local file Local file
-
An Exon 28 Mutation Resulting in Alternative Splicing of the Glycoprotein IIb Transcript and Glanzmann's Thrombasthenia
PMID: 8111043
Gene: ITGA2B
HGNC: 6138
-
-
www.sciencedirect.com www.sciencedirect.com
-
A novel Pro126His β propeller mutation in integrin αIIb causes Glanzmann thrombasthenia by impairing progression of pro-αIIbβ3 from endoplasmic reticulum to Golgi
PMID: 18976939
Gene: ITGA2B
HGNC: 6138
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Acquired Glanzmann’s thrombasthenia associated with Hairy cell leukaemia M. Kannan All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author T. Chatterjee All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author F. Ahmad All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Kumar DR BRA IRCH, New Delhi, IndiaSearch for more papers by this author V. P. Choudhry All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author R. Saxena All India Institute of Medical Sciences, New Delhi, IndiaSearch for more papers by this author
PMID: 19594615
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions an individual with Hairy cell leukemia who presented with bleeding diathesis diagnosed to have acquired GT. There is no mention of ITGA2B/ ITGB3 variants in this individual.
-
-
www.tandfonline.com www.tandfonline.com
-
A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure
PMID: 22394243
Gene: ITGA2B
HGNC: 6138
-
-
reader.elsevier.com reader.elsevier.com
-
ANEWMETHODFORQUANTITATIVEANALYSISOFWHOLEBLOODPLATELETINTERACTIONWITHEXTRACELLULARMATRIXUNDERFLOWCONDITIONS
PMID: 9062952
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Fetal‐neonatal alloimmune thrombocytopenia and unexpected Glanzmann thrombasthenia carrier: report of two cases
PMID: 15819676
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
Local file Local file
-
ORIGINAL ARTICLEMutations in GPIIIa molecule as a cause for Glanzmannthrombasthenia in Indian patients
PMID: 15748237
Gene: ITGA2B and ITGB3
HGNC: 6138 and 1656
InsufficientEvidence: This article mentions 22 GT patients and variants, which these patients harbor; however, the article does not specify which patient harbors which variants therefore there is insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The β3 subunit of the integrin αIIbβ3 regulates αIIb-mediated outside-in signaling
PMID: 15701721
Gene: ITGB3
HGNC: 6156
-
-
ashpublications.org ashpublications.org
-
Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin β1 and β3 in platelet adhesion to collagen
PMID: 22065596
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention probands or variants in ITGA2B or ITGB3; however, there are some experimental assays for consideration
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Upregulation of osteoclast α2β1 integrin compensates for lack of αvβ3 vitronectin receptor in Iraqi‐Jewish‐type Glanzmann thrombasthenia
PMID: 12956766
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients; however, there are no variants presented in ITGA2B and/or ITGB3
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
L718P mutation in the membrane-proximal cytoplasmic tail of β3 promotes abnormal αIIbβ3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype
PMID: 20081061
Gene: ITGB3
HGNC: 6156
-
-
Local file Local file
-
Severe and Relapsing Upper GastrointestinalBleeding in a Patient withGlanzmann’s Thrombasthenia
PMID: 10749344
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient (Patient DM, 55 year old); however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore there is insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis
PMID: 22174130
GeneName: SLC29A3
HGNC: HGNC:23096
Disease: H syndrome
MonDO ID: MONDO:0011273
Inheritance: AR
potential mouse model showing histiocytosis and biochemical function
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene
PMID: 16085695
GeneName: ELN
HGNC: HGNC:3327
-
-
www-thieme-connect-com.libproxy.lib.unc.edu www-thieme-connect-com.libproxy.lib.unc.edu
-
c.5954G>A
Case#: 24
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 23/18%, 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.5954G>A (p.Arg1985Gln)
ClinVar: 618098 https://www.ncbi.nlm.nih.gov/clinvar/variation/618098/
CAID: CA414905715
gnomAD: MAF for Arg1985Gln in the European (non-Finnish) population 0.00001224<br> https://gnomad.broadinstitute.org/variant/X-154132225-C-T?dataset=gnomad_r2_1
-
c.1336C>T
Case#: 11
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
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
-
c.5953C>T
Case#: 23
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
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
-
c.6977G>A
Case#: 37
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 36%, 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.6977G>A (p.Arg2326Gln)
ClinVar: 10126 https://www.ncbi.nlm.nih.gov/clinvar/variation/10126/
CAID: CA255027
gnomAD: Not reported
-
c.197A>T
Case#: 1
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 21% (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.197A>T (p.Lys66Ile)
ClinVar: NA
CAID: CA414920295
gnomAD: Not reported
-
c.5213delG
Case#: 21
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C <=1% (Severe Phenotype), No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
Gene: F8
Variant: NM_000132.3:c.5213del
ClinVar: NA
CAID: CA1139532038
gnomAD: Not reported
-
c.835G>A
Case#: 47
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FIX:C 18/26% (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(F9):c.835G>A (p.Ala279Thr)
ClinVar: 216926 https://www.ncbi.nlm.nih.gov/clinvar/variation/216926/
CAID: CA277507
gnomAD: Not reported
-
c.541G>A
Case#: 4
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 3/5/3% (Moderate 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.541G>A (p.Val181Met)
ClinVar: 10177 https://www.ncbi.nlm.nih.gov/clinvar/variation/10177/
CAID: CA255066
gnomAD: Not reported
-
c.5374–19delT
Case#: 22, Female HA carrier
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C 60%, 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.5374-19del
ClinVar: 439679 https://www.ncbi.nlm.nih.gov/clinvar/variation/439679/
CAID: CA10567985
gnomAD: MAF in the South Asian population 0.3867<br>https://gnomad.broadinstitute.org/variant/X-154133316-CA-C
-
c.4692delC
Case#: 19
DiseaseAssertion: Hemophilia A
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVIII:C <1% (Severe Phenotype), No inhibitors present
CasePreviousTesting: Screened for IVS-22 and IVS-1, Possibility that sample was blinded for NGS and validated by comparing results with Sanger Sequencing
Gene: F8
Variant: NM_000132.3:c.4692del (p.Leu1566Ter)
ClinVar: NA
CAID: CA1139532037
gnomAD: NA
Tags
- DiseaseEntity:FactorVIIIDeficiency
- ClinVarID:10145
- ClinVarID:216926
- Mutation:Frameshift
- ParentalTest:Unknown
- Mutation:Nonsense
- ClinGen Coag Fac Def VCEP
- FIXtesting:Partial
- CAID:CA255191
- ClinvarID:439679
- Gene:F8
- HGNC:3546
- inferred_gene_hgnc:3551
- ClinVarID:618098
- Mutation:Missense
- inferred_gene_source:hgnc_tag
- InheritancePattern:NoInheritanceAssertion
- CAID:CA255066
- Mutation:Intronic
- Zygosity:NoZygosityAssertion
- FVIIItesting:Partial
- CAID:CA255038
- CAID:CA1139532037
- CAID:CA414920295
- ClinVarID:10177
- CAID:CA1139532038
- Gene:F9
- CAID:CA255027
- inferred_gene_hgnc:3546
- HGNC:3551
- CAID:CA10567985
- CaseInfo
- CAID:CA277507
- ClinVarID:10300
- CAID:CA414905715
- ClinVarID:10126
- DiseaseEntity:FactorIXDeficiency
Annotators
URL
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
83
Case#: 83, male, 17 years old, Chinese
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: NA
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.5816C>A
LegacyVariant:
ClinVar: No
CAID: CA414906727
gnomAD:
-
68
Case#: 68, male, 10 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.3780C>G
LegacyVariant:
ClinVar: 40999
CAID: CA343865
gnomAD:
-
96
Case#: 96, male, 55 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.2%
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.6515C>T
LegacyVariant:
ClinVar: No
CAID: CA414907354
gnomAD:
-
145
Case#: 145, male, 35 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.205_206delCT
LegacyVariant:
ClinVar: No
CAID: CA873358609
gnomAD:
-
150
Case#: 150, male, 32 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.1786delT
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
19
Case#: 19, male, 48 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.4342C>T
LegacyVariant:
ClinVar: No
CAID: CA414918542
gnomAD:
-
178
Case#: 178, male, 29 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 exons8_9
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
156
Case#: 156, male, 23 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.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
121
Case#: 121, male, 16 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
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.5586+2T>A
LegacyVariant:
ClinVar: No
CAID: CA414908347
gnomAD:
-
131
Case#: 131, male, 23 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: na
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.5%
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.4379dupA
LegacyVariant:
ClinVar: No
CAID: CA645292749
gnomAD:
-
126
Case#: 126, male, 33 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 7.9%
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.2133_2134insT
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
48
Case#: 48, male, 37 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.2%
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.1331A>C
LegacyVariant:
ClinVar: No
CAID: CA414914983
gnomAD:
-
38
Case#: 38, male, 10 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 13%
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.530A>G
LegacyVariant:
ClinVar: No
CAID: CA414919515
gnomAD:
-
59
Case#: 59, male, 13 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.1%
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.1913G>A
LegacyVariant:
ClinVar: No
CAID: CA414909831
gnomAD:
-
57
Case#: 57, male, 9 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.1909A>G
LegacyVariant:
ClinVar: No
CAID: CA414909856
gnomAD:
-
119
Case#: 119, male, 10 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 3.3%
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.5219+3A>G
LegacyVariant:
ClinVar: No
CAID: CA873340051
gnomAD:
-
35
Case#: 35, male, 19 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.385G>C
LegacyVariant:
ClinVar: No
CAID: CA414919872
gnomAD:
-
155
Case#: 155, male, 27 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.4%
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:
-
28
Case#: 28, male, 55 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.301G>C
LegacyVariant:
ClinVar: No
CAID: CA414920057
gnomAD:
-
51
Case#: 51, male, 8 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 22%
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.1758G>A
LegacyVariant:
ClinVar: No
CAID: CA414911269
gnomAD:
-
67
Case#: 67, male, 30 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.2167G>A
LegacyVariant:
ClinVar: 10246
CAID: CA255138
gnomAD:
-
169
Case#: 169, male, 25 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.6254delA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
78
Case#: 78, male, 44 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 21%
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.5558C>T
LegacyVariant:
ClinVar: 10284
CAID: CA255174
gnomAD:
-
149
Case#: 149, male, 37 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: Maternity confirmed
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.1780delC
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
116
Case#: 116, male, 29 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.1443+2T>G
LegacyVariant:
ClinVar: No
CAID: CA414914230
gnomAD:
-
173
Case#: 173, male, 21 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 exons1_26
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
86
Case#: 86, male, 63 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 26%
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.6380A>G
LegacyVariant:
ClinVar: No
CAID: CA414899587
gnomAD:
-
135
Case#: 135, male, 54 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.5961dupA
LegacyVariant:
ClinVar: No
CAID: CA645251974
gnomAD:
-
82
Case#: 82, male, 38 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.5720G>A
LegacyVariant:
ClinVar: No
CAID: CA414907651
gnomAD:
-
55
Case#: 55, male, 36 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 17%
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:
-
18
Case#: 18, male, 15 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 20%
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.3325C>T
LegacyVariant:
ClinVar: No
CAID: CA414897253
gnomAD:
-
144
Case#: 144, male, 14 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.1%
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.4320_4325delTAGAAA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
160
Case#: 160, 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.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
185
Case#: 185, 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.del exon26
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
110
Case#: 110, male, 9 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.7021G>C
LegacyVariant:
ClinVar: No
CAID: CA414896760
gnomAD:
-
130
Case#: 130, male, 16 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 17.5%
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.3802dupC
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
50
Case#: 50, male, 50 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 16.3%
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.1745G>A
LegacyVariant:
ClinVar: No
CAID: CA414911614
gnomAD:
-
95
Case#: 95, male, 76 years old, Chinese
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 17%
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.6506G>A
LegacyVariant:
ClinVar: 10315
CAID: CA255208
gnomAD:
-
33
Case#: 33, male, 25 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: NA
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 3.8%
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.382T>C
LegacyVariant:
ClinVar: 811825
CAID: CA414919878
gnomAD:
-
103
Case#: 103, male, 10 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.6635C>T
LegacyVariant:
ClinVar: No
CAID: CA414905841
gnomAD:
-
113
Case#: 113, male, 27 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.388+5G>A
LegacyVariant:
ClinVar: No
CAID: CA873357439
gnomAD:
-
22
Case#: 22, male, 30 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.6496C>T
LegacyVariant:
ClinVar: 10096
CAID: CA255013
gnomAD:
-
72
Case#: 72, male, 31 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 4.6%
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.5399G>A
LegacyVariant:
ClinVar: 10274
CAID: CA255162
gnomAD:
-
44
Case#: 44, male, 9 years old, Chinese
DiseaseAssertion: Hemophilia A, moderate
FamilyInfo: Noted Family History
ParentalTesting: Maternity confirmed
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 1.7%
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.1171C>T
LegacyVariant:
ClinVar: 10125
CAID: CA255026
gnomAD:
Tags
- Mutation:Frameshift
- CAID:CA343865
- ClinVarID:10125
- CAID:CA414908347
- CAID:CA414914230
- ClinGen Coag Fac Def VCEP
- UnregisteredVariant
- CAID:CA255208
- ClinVarID:10284
- CAID:CA414920057
- CAID:CA255138
- Gene:F8
- HGNC:3546
- CAID:CA414919878
- AssayDiscrepancy:NotReported
- CAID:CA255174
- ClinVarID:811825
- CAID:CA414911614
- ToCheck
- Mutation:Missense
- CAID:CA414911269
- CAID:CA414907651
- CAID:CA414907354
- CAID:CA414897253
- ClinVarID:40999
- CAID:CA255129
- DiseaseSeverity:ModerateHemophiliaA
- CAID:CA255162
- CaseInfo
- CAID:CA414918542
- CAID:CA414909831
- FIXtesting:Full
- Inhibitor:Absent
- DiseaseEntity:FactorVIIIDeficiency
- CAID:CA255026
- CAID:CA414914983
- CAID:CA645251974
- CAID:CA414919515
- CAID:CA414899587
- CAID:CA873357439
- CAID:CA873358609
- ClinVarID:10246
- CAID:CA414906727
- Mutation:Nonsense
- Mutation:Large
- DiseaseSeverity:SevereHemophiliaA
- FIXtesting:Partial
- ParentalConfirmation:Maternity
- CAID:CA414919872
- ClinVarID:10236
- ClinVarID:10315
- Inhibitor:Present
- ClinVarID:10274
- inferred_gene_source:hgnc_tag
- CAID:CA255146
- Zygosity:Hemizygous
- CAID:CA255013
- inferred_gene_hgnc:3546
- ClinVarID:10096
- Mutation:Splice
- CAID:CA645292749
- CAID:CA414909856
- CAID:CA414896760
- SupplementalData
- DiseaseSeverity:MildHemophiliaA
- CAID:CA873340051
- CAID:CA414905841
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Recurrent episodes of anaphylaxis in a patient with haemophilia B: a case report
PMID: 27177407
Gene: F9
HGNCID: 3551
-
-
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
-
038–2012
Case#: 038-2012
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:
-
047–1013
Case#: 047-1013
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: 5% < FVIII:C < 40%, 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.1492G>C
LegacyVariant:
ClinVar: No
CAID: CA414912741
gnomAD:
-
048–1001
Case#: 048-1001
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:
-
047–1008
Case#: 047-1008
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.1336C>T
LegacyVariant:
ClinVar: No
CAID: CA255038
gnomAD:
-
002–2010
Case#: 002-2010
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:
-
035–2005
Case#: 035-2005
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.1175C>T
LegacyVariant:
ClinVar: No
CAID: CA255095
gnomAD:
-
068–2003
Case#: 068-2003
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.5275G>A
LegacyVariant:
ClinVar: No
CAID: CA414911087
gnomAD:
-
004–2013
Case#: 004-2013
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.6046C>T
LegacyVariant:
ClinVar: No
CAID: CA255197
gnomAD:
-
022–2007
Case#: 022-2007
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.73_75delTAC
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
015–2008
Case#: 015-2008
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.dupexons7_22
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
001–2052
Case#: 001-2052
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.1988C>T
LegacyVariant:
ClinVar: No
CAID: CA255135
gnomAD:
-
050–1001
Case#: 050-1001
DiseaseAssertion: Hemophilia A, moderate
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.6046C>T
LegacyVariant:
ClinVar: No
CAID: CA255197
gnomAD:
-
003–1002
Case#: 003-1002
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: NM_000132.3:c.493C>T
LegacyVariant:
ClinVar: No
CAID: CA255065
gnomAD:
-
001–2022
Case#: 001-2022
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.947_949insA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
060–2008
Case#: 060-2008
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.1618C>A
LegacyVariant:
ClinVar: No
CAID: CA414911950
gnomAD:
-
047–1007
Case#: 047-1007
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.1093T>G
LegacyVariant:
ClinVar: No
CAID: CA414916885
gnomAD:
-
020–2015
Case#: 020-2015
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.5612T>G
LegacyVariant:
ClinVar: No
CAID: CA414908197
gnomAD:
-
028–1001
Case#: 028-1001
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:
-
004–2025
Case#: 004-2025
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.328A>G
LegacyVariant:
ClinVar: No
CAID: CA255057
gnomAD:
-
001–2049
Case#: 001-2049
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:
-
004–2007
Case#: 004-2007
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.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
-
045–2002
Case#: 045-2002
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:
-
003–2012
Case#: 003-2012
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.992T>C
LegacyVariant:
ClinVar: No
CAID: CA414917621
gnomAD:
-
003–2017
Case#: 003-2017
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.4379dupA
LegacyVariant:
ClinVar: No
CAID: CA645292749
gnomAD:
-
020–2052
Case#: 020-2052
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.923C>T
LegacyVariant:
ClinVar: No
CAID: CA255082
gnomAD:
-
003–2007
Case#: 003-2007
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.1475A>G
LegacyVariant:
ClinVar: No
CAID: CA337334224
gnomAD:
-
047–1001
Case#: 047-1001
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:
-
087–2003
Case#: 087-2003
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.5122C>T
LegacyVariant:
ClinVar: No
CAID: CA120919
gnomAD:
-
038–2016
Case#: 038-2016
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.3531_3533delA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
020–2045
Case#: 020-2045
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.458A>T
LegacyVariant:
ClinVar: No
CAID: CA414919676
gnomAD:
-
038–1003
Case#: 038-1003
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.331G>A
LegacyVariant:
ClinVar: No
CAID: CA414919991
gnomAD:
-
035–1003
Case#: 035-1003
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:
-
084–2006
Case#: 084-2006
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:
-
001–2045
Case#: 001-2045
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.1462G>A
LegacyVariant:
ClinVar: No
CAID: CA414912862
gnomAD:
-
071–2032
Case#: 071-2032
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.308_319delGTGGTCATTACA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
001–2028
Case#: 001-2028
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.4379dupA
LegacyVariant:
ClinVar: No
CAID: CA645292749
gnomAD:
-
038–2020
Case#: 038-2020
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.3637delA
LegacyVariant:
ClinVar: No
CAID: CA255146
gnomAD:
Tags
- DiseaseEntity:FactorVIIIDeficiency
- CAID:CA255082
- CAID:CA255065
- ParentalTest:Unknown
- CAID:CA120919
- Mutation:Large
- Mutation:Nonsense
- ClinGen Coag Fac Def VCEP
- FIXtesting:Partial
- DiseaseSeverity:SevereHemophiliaA
- UnregisteredVariant
- CAID:CA414919676
- CAID:CA414912862
- CAID:CA414911950
- Inhibitor:NotReported
- CAID:CA414919991
- Gene:F8
- HGNC:3546
- AssayDiscrepancy:NotReported
- Inhibitor:Present
- PreviousTesting:None
- ToCheck
- Mutation:Missense
- inferred_gene_source:hgnc_tag
- InheritancePattern:NoInheritanceAssertion
- CAID:CA414912741
- CAID:CA255135
- CAID:CA337334224
- Zygosity:NoZygosityAssertion
- FVIIItesting:Partial
- CAID:CA414917990
- CAID:CA255038
- CAID:CA255129
- CAID:CA414909849
- CAID:CA255146
- DiseaseSeverity:ModerateHemophiliaA
- CAID:CA414917621
- CAID:CA414908197
- inferred_gene_hgnc:3546
- CAID:CA645292749
- CaseInfo
- CAID:CA255095
- CAID:CA255057
- CAID:CA414911087
- SupplementalData
- DiseaseSeverity:MildHemophiliaA
- CAID:CA255197
- Inhibitor:Absent
- CAID:CA414916885
Annotators
URL
-
-
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
-
B83
Case#: B83
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C Chr = 17, FVIII:AG = 19, 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.6448G>A
LegacyVariant:
ClinVar: No
CAID: CA414907951
gnomAD:
-
A14 A15
Case#: A14, A15
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C = 15, FVIII:AG = 41, 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.5530C>T
LegacyVariant:
ClinVar: No
CAID: CA255170
gnomAD:
-
B79 – B82
Case#: B79 - B82
DiseaseAssertion: Hemophilia A, mild
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C Chr = 7, FVIII:AG = 15, 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.6413C>A
LegacyVariant:
ClinVar: No
CAID: CA255204
gnomAD:
-
B28. B29
Case#: B28, B29
DiseaseAssertion: NA
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0003125
CaseHPOFreeText: FVIII:C Chr = 78, FVIII:AG = 94, 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.2089G>C
LegacyVariant:
ClinVar: No
CAID: CA414909014
gnomAD:
Tags
- DiseaseEntity:FactorVIIIDeficiency
- FVIIItesting:Full
- ParentalTest:Unknown
- ClinGen Coag Fac Def VCEP
- CAID:CA414907951
- NoDiseaseAssertion
- Inhibitor:NotReported
- CAID:CA255204
- Gene:F8
- HGNC:3546
- PreviousTesting:None
- ToCheck
- Mutation:Missense
- inferred_gene_source:hgnc_tag
- InheritancePattern:NoInheritanceAssertion
- Zygosity:NoZygosityAssertion
- CAID:CA255170
- inferred_gene_hgnc:3546
- AssayDiscrepancy:OSA>CSA
- CaseInfo
- CAID:CA414909014
- DiseaseSeverity:MildHemophiliaA
- AssayDiscrepancy:OSA<CSA
Annotators
URL
-
-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
The proband was a 12-year-old boy
PMID: 31904612
Gene: F9
HGNCID: 3551
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
C.6857A>G
Case#: 30
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
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:c.6857A>G (p.Asp2267Gly)
ClinVar: NA
CAID: CA414903332
gnomAD: Not reported
-
C.6427A>G
Case#: 28
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
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:c.6427A>G (p.Met2124Val)
ClinVar: NA
CAID: CA414899297
gnomAD: Not reported
-
c.1910A>T
Case#: 23
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.1910A>T (p.Asn618Ile)
ClinVar: NA
CAID: CA414909847
gnomAD: Not reported
-
c.1180G>T
Case#: 18, Spanish
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:c.1180G>T (p.Ala375Ser)
ClinVar: NA
CAID: CA414916327
gnomAD: Not reported
-
c.5805T>A
Case#: 8
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.5805T>A (p.Tyr1935Ter)
ClinVar: NA
CAID: CA414906924
gnomAD: Not Reported
-
c.1251insC
Case#: 1
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.1251_1252insC (p.Val418ArgfsTer6)
ClinVar: NA
CAID: CA1139532040
gnomAD: Not reported
Tags
- DiseaseEntity:FactorVIIIDeficiency
- CAID:CA414906924
- Mutation:Frameshift
- ParentalTest:Unknown
- inferred_gene_hgnc:3546
- CAID:CA414899297
- CAID:CA414903332
- ClinGen Coag Fac Def VCEP
- Mutation:Nonsense
- InheritancePattern:Xlinked
- CaseInfo
- CAID:CA1139532040
- Gene:F8
- HGNC:3546
- CAID:CA414909847
- Mutation:Missense
- inferred_gene_source:hgnc_tag
- InheritancePattern:NoInheritanceAssertion
- CAID:CA414916327
- Zygosity:NoZygosityAssertion
Annotators
URL
-
-
oce-ovid-com.libproxy.lib.unc.edu oce-ovid-com.libproxy.lib.unc.edu
-
Table 2
Case#: Cz23, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Sporadic
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#: Cz39, 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
-
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia a in southern Italy
PMID: 18388498
Gene: F8
HGNCID: 3546
-
Table 2
Case#: Cz15, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C 2.4%
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#: Cz8, 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#: Cz17, 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:c.3224del (p.Ala1075ValfsTer4)
ClinVar: NA
CAID: NA
gnomAD: Not reported
-
Table 2
Case#: Cz4, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C 2.4%
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#: Cz38, 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 2
Case#: Cz10, 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#: Cz16, 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
-
Table 2
Case#: Cz27, Italy (Calabria)
DiseaseAssertion: Hemophilia A
FamilyInfo: Inherited
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: FVII:C 3.5%
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
Tags
- DiseaseEntity:FactorVIIIDeficiency
- Mutation:Frameshift
- ParentalTest:Unknown
- inferred_gene_hgnc:3546
- Mutation:Nonsense
- ClinGen Coag Fac Def VCEP
- UnregisteredVariant
- InheritancePattern:Xlinked
- General
- CaseInfo
- CAID:CA255191
- Gene:F8
- HGNC:3546
- InheritancePattern:DeNovoAssertion
- Zygosity:NoZygosityAssertion
- ClinVarID:10300
- inferred_gene_source:hgnc_tag
- Mutation:Intronic
- CAID:CA873354114
- FVIIItesting:Partial
- ClinVarID:10150
- ClinVarID:811357
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
S25
Case#: S25, Iranian
DiseaseAssertion: Hemophilia A, severe
FamilyInfo: Family history of HA
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.3870dupA
LegacyVariant:
ClinVar: No
CAID: CA645616770
gnomAD:
-
S7
Case#: S7, 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.1444‐1G>T
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
S4
Case#: S4, 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: NA
LegacyVariant:
ClinVar: No
CAID: No
gnomAD:
-
S11
Case#: S11, 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:
Tags
- DiseaseEntity:FactorVIIIDeficiency
- Mutation:Frameshift
- ParentalTest:Unknown
- inferred_gene_hgnc:3546
- DiseaseSeverity:SevereHemophiliaA
- ClinGen Coag Fac Def VCEP
- UnregisteredVariant
- Mutation:Splice
- CaseInfo
- Gene:F8
- HGNC:3546
- AssayDiscrepancy:NotReported
- Inhibitor:Present
- ToCheck
- inferred_gene_source:hgnc_tag
- Mutation:Intronic
- FVIIItesting:Partial
- CAID:CA645616770
- Inhibitor:Absent
Annotators
URL
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pdf.sciencedirectassets.com pdf.sciencedirectassets.com
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Risk factors for inhibitor development in severe hemophilia A
PMID: 29879570
Gene: F8
HGNC: 3546
InsufficientEvidence: This article is a review, so no new case reports have been mentioned here
PreviouslyPublished
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journals.lww.com journals.lww.com
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A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
PMID:
Gene: F9
HGNCID: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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3-year-old boy
Case1: 3-year-old boy
DiseaseAssertion: Severe Hemophilia B
FamilyInfo: The pathogenic mutation of F9 gene in this family was identified, Mother and Grandmother are HB carriers, Father tested negative. Pedigree shown in Figure 1.
ParentalTesting: Sequences at the mutation locus in F9 genes were analyzed by Sanger sequencing.
CasePresentingHPOs: NA
CaseHPOFreeText: Hemorrhagic spots on his skin at birth, Gingival bleeding, APTT 66.5 s, FIX:C < 1%, FVIII:C 116.8%
CasePreviousTesting: PCR amplification for coding and flanking sequences of F9 gene, PCR amplification products sequenced by Songon Biotech Co. Ltd.
Gene: F9
Variant: NM_000133.3:c.1232G>C (p.Ser411Thr)
ClinVar: NA
CAID: CA414446686
gnomAD: NA
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Genetic analysis of a hemophilia B family with a novel F9 gene mutation
PMID: 31124946
Gene: F9
HGNCID: 3551
Tags
- Gene:F9
- HGNC:3551
- ClinGen Coag Fac Def VCEP
- FIXtesting:Partial
- InheritancePattern:Xlinked
- General
- CaseInfo
- ParentalConfirmation:Maternity
- ParentalTest:Both
- FamilyInfo
- inferred_gene_hgnc:3551
- CAID:CA414446686
- Mutation:Missense
- inferred_gene_source:hgnc_tag
- DiseaseEntity:FactorIXDeficiency
- Zygosity:NoZygosityAssertion
Annotators
URL
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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UQU-HB3
Case#: UQU-HB3, Male, 1-months-old, Saudi Arabia
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Severe, PTT 50.9, Disabled left ankle
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
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UQU-HB9
Case#: UQU-HB9, Male, 1-months-old, Saudi Arabia
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: NA
CaseHPOFreeText: Moderate, PTT 51.4, Unable to flex knees fully
CasePreviousTesting: Screened for all factor IX exons by capillary sequencing
Gene: F9
Variant: NM_001313913.1:c.580G>A
ClinVar: NA
CAID: CA414441211
gnomAD: Not reported
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UQU-HB11
Case#: UQU-HB11, Male, 1-months-old, Saudi Arabia
DiseaseAssertion: Hemophilia B
FamilyInfo: NA
ParentalTesting: NA
CasePresentingHPOs: HP:0001892 (Abnormal bleeding)
CaseHPOFreeText: Severe, Unable to flex elbows fully, PTT 148.3
CasePreviousTesting: Screened for all factor IX exons by capillary sequencing
Gene: F9
Variant: NM_000133.4(F9):c.855G>C (p.Glu285Asp)
ClinVar: 828138 https://www.ncbi.nlm.nih.gov/clinvar/variation/828138/
CAID: CA414444506
gnomAD: Not reported
Tags
- DiseaseEntity:FactorVIIIDeficiency
- CAID:CA414441211
- Gene:F9
- ParentalTest:Unknown
- HGNC:3551
- ClinGen Coag Fac Def VCEP
- CAID:CA414444506
- CaseInfo
- inferred_gene_hgnc:3551
- Mutation:Missense
- inferred_gene_source:hgnc_tag
- InheritancePattern:NoInheritanceAssertion
- DiseaseEntity:FactorIXDeficiency
- Zygosity:NoZygosityAssertion
- ClinVarID:828138
Annotators
URL
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A Novel Missense Mutation, E1623G, in the Human Factor VIII Gene Associated With Moderate Haemophilia A
PMID: 24719712
Gene: F8
HGNCID: 3546
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