Case1: Male, 6 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo:

ParentalGenotype: "No platelet sample from the patient's mother and father were available"

CasePresentingHPOs: N/A

CaseHPOFreeText: Mild spontaneous mucocutaneous bleeding

CaseNotHPOs: N/A

ProteinExpression: Assessment of surface expression of αIIBβ3 D217 and αIIBβ3 V217 by flow cytometry was performed. αIIb and β3 were expressed at normal levels.

Platelet Aggregation: Absence of platelet aggregation in response to agonists such as ADP, epinephrine, or collagen and a normal response to ristocetin

CasePreviousTesting: Sequencing of αIIb and β3 genes revealed a homozygous missense A>T point mutation in the β3 gene leading to a D217Val substitution.

Gene: ITGB3

Variant: NM_000212.2:c.728A>T (p.Asp243Val)

LegacyVariant: (p.Asp217Val)

ClinVar: N/A

CAiD: CA400023604

gnomAD N/A