Case1: Female, 26 years old, Iranian-Jewish

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Pedigree shown in Fig 4 B. One of her brothers was affected by a bleeding disorder of similar severity

ParentalGenotype: Mother and father were heterozygous carriers for the mutation

CasePresentingHPOs: N/A

CaseHPOFreeText: Moderate mucocutaneous bleeding

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Immunoblotting showed small amounts of GPIIIa and minute amounts of pro-GPIlb confirming type 1 GT

PlateletAggregation: Absent aggregation in response to ADP, collagen, epinephrine, and had a normal response to risotcetin

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.2473_2478delinsTCACCAGGGCCTTCACCTCAGCATCCACCAG

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA913184731

gnomAD: N/A