Case2: Patient ID B, Male, 16 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 asserts family information is provided; however, minimal information

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406, HP:0000225

(Recurrent epsitaxis, gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

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.641T>G (p.Leu214Arg)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805518

gnomAD: MAF in South Asian population 0.00003266 http://gnomad.broadinstitute.org/variant/17-42462561-A-C