Case#: Male 74 (age when studied)

Disease: Glazmann's Thrombasthenia Like Syndrome

CasePresentingHPOs: HP:0001873, HP:0005110, HP:0001638, HP:0000225, HP:0000978

Thrombocytopenia, Atrial fibrillation, cardiomyopathy, gingival bleeding, easy bruising

CaseNotHPOs: NA

FamilyInfo: Pedigree figure 1. Several affected family members, history of thrombocytopenia.

PlateletAgreggation:Daughter studied: Normal aggregation to epi and ADP, ristocetin not tested.

GenotypingMethod: Genetic analysis of ITGA2B and ITGB3 genes was performed by next-generation sequencing (NGS). Sanger sequencing used to confirm variants.

ClinVar: 50227

CAID: CA143709

Variant: NM_000212.3:c.2245G>C (ITGB3)

GnomAD: Not found

ExpressionEvidence: Level of expression on PLT surface determined by FCM: CD41a (GPIIb/IIIa) 66%, CD61 (GPIIIa) 65.5%, and CD42b (GPIb) 113%. Healthy control value range: CD41a (GPIIb/IIIa) (85-115%); CD61 (GPIIIa) (80-120%); CD42b (GPIb) (70-130%).