Case1: Female, 20 years old, Chinese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978, HP:0000421,

(Easy bruising, epistaxis)

CaseHPOFreeText: Prolonged bleeding time (more than 20 minutes, absent clot retraction

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Decreased of surface expression of αIIb and β3 in patient's platelets

PlateletAggregation: Absent in vitro platelet aggregation in response to ADP, epinephrine, and collagen, but relatively normal ristocetin induced platelet aggregation

CasePreviousTesting: DNA fragments containing exons and flanking intronic regions of ITGA2B and ITGB3 genes were produced by PCR using primers. Amplified fragments were subjected to analysis by direct DNA sequencing

Gene: ITGA2B

Variant: NM_000419.3:c.527C>A (p.Pro157His)

LegacyVariant: (p.Pro126His)

ClinVar: N/A

CAiD: CA8603447

gnomAD: MAF in the African population is 0.00006689 http://gnomad.broadinstitute.org/variant/17-42462966-G-T