Case1: Male, 52 years old, Japanese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0002584

(Intestinal bleeding)

CaseHPOFreeText: Bleeding tendency since childhood

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Fly cytometry analysis demonstrated no detectable amounts of GPIIb-IIIa complexes or GPIIb on the surface of transfected 293-T cells, whereas normal expression was observed with the wild type GPIIb. GPIIIa was detected, although the expression level was low

PlateletAggregation: Platelet aggregation showed no response to ADP or collagen but did show a normal response to ristocetin

CasePreviousTesting: Genomic DNA was extracted from peripheral blood mononuclear cells, and the flanking region of exon 3 of the GPIIb gene was amplified by PCR. Primers were synthesized according to the method described in a previous report [7]. PCR products were then subjected to direct sequencing

Gene: ITGA2B

Variant: NM_000419.3:c.399C>G (p.Asp133Glu)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399806084

gnomAD: N/A