Case9: No assertion made on age, gender or ethnicity

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 mentions family history available for this proband.

ParentalGenotype: The identified variants were heterozygote in parents.

CasePresentingHPOs: HP:0030402, HP:0005542

(Abnormal platelet aggregation, prolonged clotting time)

CaseHPOFreeText: Bleeding time greater than 20 minutes and hematocrit of 38.1%.

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

CasePreviousTesting: Genetic study of patient was conducted using direct sequencing of entire coding and exon-intron boundaries of the ITGA2B and ITGB3 genes.

Gene: ITGA2B

Variant: NM_000419.3:c.286T>A (p.Cys96Ser)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA8603504

gnomAD: N/A