Case14: Patient ID N, Male, 7 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000967, HP:0000979, HP:0000978, HP:0004406, HP:0000225

(Petechiae, purpura, easy bruising, recurrent epistaxis, gingival bleeding)

CaseHPOFreeText: Hemorrhage after dental, hemorrhage after trauma

CaseNotHPOs: HP:0002239, HP:0002239, HP:0000790, HP:0005261, HP:0002248

(GI bleeding, intracranial hemorrhage, hematuria, hemarthrosis, hematemesis)

CaseNotHPOsFreeText: Ear bleeding

ProteinExpression: N/A

PlateletAggregation: Defective response to ADP, adrenaline, collagen, arachidonic acid, and normal response to ristocetin

CasePreviousTesting: Exon PCR was used to amplify coding regions of the ITGA2B and ITGB3 genes. PCR products were purified and Sanger sequenced. Segregation using parental samples was undertaken when available

Gene: ITGB3

Variant: NM_000212.2:c.774T>A (p.Cys258Ter)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA400023704

gnomAD: N/A