Hypothesis

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Case4: No gender, age, or ethnicity provided. Patient followed in Germany

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Severe bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

PlateletAggregation: Minimal information, not specific enough

CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.

Gene: ITGB3

Variant: NM_000212.2:c.1717T>C (p.Cys573Arg)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA400032387

gnomAD: N/A

Individual CaseInfo Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense ProteinExpression:NotReported PlateletAggregation:MinimalInformation CAiD:CA400032387 Zygosity:NoZygosityAssertion PreviousTesting:Full inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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