Case#: patient 2

DiseaseAssertion: Glanzmann thrombasthenia

**FamilyInfo: **

ParentalGenotype: If noted by authors, annotate with the carrier status of each parent in regards to the variant(s) identified in the proband.

CasePresentingHPOs:

PlateletAggregation: absent platelet integrin αIIbβ3. Monolayer of spread platelets essentially devoid of fibrinogen binding but with high CD62P expression and phosphatidylserine exposure (Figure S1). Figure 5.

CaseHPOFreeText:

CaseNotHPOs:

**CaseNotHPOFreeText: **

ProteinExpression:

CasePreviousTesting:

**PreviouslyPublished: **

Gene: ITGA2B

**HGVS: **

**ClinVar: **

CAID:

**gnomAD: **

Gene: ITGA2B

**HGVS: ** NM_000419.5:c.2051T>G

**ClinVar: ** 1330350

CAID: CA399799849

**gnomAD: **