Case1: 30 year old, Female (primigravada), ethnicity not reported

DiseaseAssertion: Type-1 Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: See Table 1 (Father wild type and mother has frameshift mutation)

CasePresentingHPOs: HP:0000132 (Menorrhagia)

CaseHPOFreeText: Vaginal bleeding, haematochezia

CaseNotHPOs: N/A

CaseNotHPOsFreeText: Proband did not have any bleeding manifestations at the age of 16

ProteinExpression: Using flow cytometry, the test sample (normal plate-lets+patient plasma) showed only 28% GPIIb-IIIa expression as compared to 81.4% GPIIb-IIIa expression seen in the control sample(normal platelets+control plasma) (Fig. 1B) confirming the presence of GPIIbIIIa antibodies in patient plasma.

PlateletAggregation: Absent aggregation in response to ADP and collagen and normal response to ristocetin (Platelet aggregation information found in Table 1)

CasePreviousTesting: The mutation analysis was performed by Sanger sequencing of both ITGA2B and ITGB3 genes, which showed a frameshift mutation: c.1230_1230delC, cDNA.1262_1262delC (Y411Tfs*20) due to a single base deletion in exon 13 of ITGA2B

Gene: ITGA2B

Variant: NM_000419.3:c.1230del

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940214

gnomAD: N/A

Case9: Female, 5 years old, Indian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421 (Epistaxis)

CaseHPOFreeText: Hematomas at the site of injury

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: HP:0000421

PlateletAggregation: Diagnosis of GT was made on the basis of impaired platelet aggregation (platelet aggregation was tested against ristocetin, ADP, collagen, epinephrine and arachidonic acid)

CasePreviousTesting: Multiplex PCR by using GPIIb primers and CSGE analysis were performed

Gene: ITGA2B

Variant: NM_000419.3:c.1230del

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940214

gnomAD: N/A