Case: (Patient M) Gender, age, ethnicity are not specified

DiseaseAssertion: Glanzmann thrombasthenia (diagnosed at 1 year old)

FamilyInfo: N/A

ParentalGenotype: Mother: (p.Val298Phe) and Father: (p.Tyr380Ter)

CasePresentingHPOs: (Went to Reference #17 to see what lab findings/phenotypes were reported for this patient; however, access not available to this article)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: By immunoblot analysis, both αIIb and β3 subunits were detected in the patient's platelet lysates, but at reduced levels compared to a healthy control and samples from both parents (Figure1A)

CasePreviousTesting: Direct sequence analysis of the of the genes encoding αIIb were performed on DNA isolated from leukocytes obtained from Patient M and family members

Gene: ITGA2B

Variant: NM_000419.3:c.985G>T (p.Val329Phe) and NM_000419.3:c.1232dup (Tyr411Ter)

LegacyVariant: (p.Val298Phe) and (p.Tyr380Ter)

ClinVar: N/A

CAiD: CA399804719 and CA915940593

gnomAD: MAF in the South Asian population is 0.0001312 https://gnomad.broadinstitute.org/variant/17-42458407-G-A

Case50: (GT-62) Female, age or ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding severity: Severe (See Supplementary Table 3)

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry performed and CD41 and CD61 were observed (See Supplementary Table 3)

PlateletAggregation: Minimal information (See Supplementary Table 3)

CasePreviousTesting: DNA was extracted from peripheral blood samples from patients and family members, and Sanger sequencing and PCR was performed. Samples were processed for targeted sequencing using the available SHGp heme panel of 393 genes.

Gene: ITGA2B and ITGB3

Variant: NM_000419.3:c.985G>T (p.Val329Phe) and NM_000212.2:c.1265G>A (p.Ser422Asn)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399804719 (p.Val329Phe) and CA291225740 (p.Ser422Asn)

gnomAD: N/A

Case45: (GT-56) Female, age or ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding severity: Moderate (See Supplementary Table 3)

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry performed and CD41 and CD61 were observed (See Supplementary Table 3)

PlateletAggregation: Minimal information (See Supplementary Table 3)

CasePreviousTesting: DNA was extracted from peripheral blood samples from patients and family members, and Sanger sequencing and PCR was performed. Samples were processed for targeted sequencing using the available SHGp heme panel of 393 genes.

Gene: ITGA2B

Variant: NM_000419.3:c.985G>T (p.Val329Phe)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399804719

gnomAD: N/A