Case1: (Patient JO) Female, 38 years old, Japanese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Parents shown Fig 6

CasePresentingHPOs: HP:0000978, HP:000042, HP:0000132

(Easy bruising, epistaxis, menorrhagia)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

ProteinExpression: Figure 6 shows surface expression

Platelet Aggregation: Absent aggregation in response to ADP, epinephrine, collagen and thrombin however normal response to ristocetin

CasePreviousTesting: Total cellular RNA was obtained, and aIIbb3 mRNAs were specifically amplified by reverse transcription PCR (RT-PCR) as previously described (41).

Gene: ITGA2B

Variant: NM_000419.3:c.575_576insGGACAA (went over with Shruthi)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940650

gnomAD N/A