Case1: Patient ID A, Male, 6 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A (Parents are consangenous)

CasePresentingHPOs: HP:0000978, HP:0002239

(Easy bruising, gastrointestinal bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0000967, HP:0000979, HP:0004406, HP:0000225, HP:0002239, HP:0000790, HP:0005261

(Petechiae, purpura, recurrent epistaxis, gingival bleeding, intracranial hemorrhage, hematuria, hemarthrosis)

CaseNotHPOsFreeText: Hemhorrage after dental, hemhorrage after trauma, ear bleeding, hematoma

ProteinExpression: N/A

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

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

Gene: ITGA2B

Variant: NM_000419.3:c.435C>A (p.Asn145Lys) and NM_000419.3:c.531T>A (p.Cys177Ter)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805991 and CA290955739

gnomAD: N/A

PreviouslyPublished: PMID: 20020534