Case2: Male, 10 years old, Andra Pradesh India

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0031364, HP:0002239, HP:0000225

(Epistaxis, ecchymosis, GI bleeding, gingival bleeding)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: See Table 1 for values

PlateletAggregation: See Table 1 for values

CasePreviousTesting: PCR amplification of ITAG2B and ITGB3

Gene: ITGA2B

Variant: NM_000419.3:c.475G>A (p.Gly159Ser)

LegacyVariant: (p.Gly128Ser)

ClinVar: N/A

CAiD: CA8603454

gnomAD: MAF in the South Asian population is 0.00003267 https://gnomad.broadinstitute.org/variant/17-42463018-C-T

Case1: Patient 1, diagnosed at 4 years, gender and ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000978, HP:0000421

(Easy bruising, epistaxis)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Immunoblot analysis of platelet lysates showed no detectable pro-αIIb or mature αIIb in any of the patient samples

PlateletAggregation: Absent in vitro platelet aggregation in response to ADP, epinephrine, and collagen

CasePreviousTesting: Polymerase chain reaction (PCR), single strand conformation polymorphism (SSCP) analysis, and DNA sequencing was performed for ITGA2B

Gene: ITGA2B

Variant: NM_000419.3:c.475G>A (p.Gly159Ser)

LegacyVariant: p.Gly128Ser

ClinVar: N/A

CAiD: CA8603454

gnomAD: MAF in the South Asian population is 0.00003267 http://gnomad.broadinstitute.org/variant/17-42463018-C-T