Case1: P1, gender, age, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Article mentions all patients have a severe bleeding phenotype

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: αIIbβ3 expression levels were (undetectable in patient 1)

PlateletAggregation: N/A

CasePreviousTesting: Acknowledgements section mentions acknowledging the Genoscope team for sequencing both ITGA2B and ITGB3 genes of the GT patients in this article

Gene: ITGA2B

Variant: NM_000419.3:c.2148dup (p.Leu717AlafsX3a)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940304

gnomAD: N/A

Supplementary Table S1 & S2 Proband and Variant Information:

Case42: GT42, Male, 15 years old, Egyptian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0012541, HP:0002239, HP:0031364, HP:0030137

(Cephalohematoma, GI bleeding, ecchymosis, prolonged bleeding after circumcision)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed <5% expression of αIIbβ3 (See Supplementary Table 1)

PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)

CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

Gene: ITGA2B

Variant: NM_000419.3:c.2148dup (p.Leu717Alafs*3)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940304

gnomAD: N/A

Supplementary Table S1:

Case36: GT42, Canadian/Egypt, gender and age not specified

DiseaseAssertion: Glanzmann thrombasthenia type I

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: All patients had a life-long history of mucocutaneous bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: All patients in this study met the clinical and platelet function requirements for GT-- this includes an absent or strongly reduced expression of alphaIIbBeta3 in platelets

PlateletAggregation: All patients in this study met the clinical and platelet function requirements for GT-- this includes absent or severely reduced platelet aggregation with at least three physiological agonists

CasePreviousTesting: Sanger sequencing was performed. Sanger sequencing ensured coverage of all exons and splice sties of the ITGA2B and ITGB3 genes and extended 300-500 bp into the introns as well as including the UTR. They sequenced 416 bp upstream of the ITGA2B promoter and 463 bp upstream of the ITGB3 promoter. In total they sequenced 51.2% of the ITGA2B gene and 19.4% of the larger ITGB3 gene

Gene: ITGA2B

Variant: NM_000419.3:c.2148dup (p.Leu717AlafsTer3)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940304

gnomAD: N/A

Case#: Male, 62, Egyptian

DiseaseAssertion: GT with concurrent platelet CD36 deficiency (~1 in 100 million) and anti‐CD36 antibodies

CasePresentingHPOs: HP:0000421,Epistaxis. HP:0000978, Bruising susceptibility. HP:0000225, Gingival bleeding. HP:0001903, Anemia. HP:0001934, Persistent bleeding after trauma. HP:0001058, Poor wound healing. HP:0002573, Hematochezia. HP:0005261, Joint hemorrhage.

PlateletAggregation: See Table 1. Normal platelet count. Normal platelet size, modestly elevated mean platelet volume. Normal response to ristocetin.

ProteinExpression: Flow cytometry. GPIb/IX Expression 108% (range: 65-124%); GPIIb/IIIa expression 0% (range:65-124%).

Gene: ITGA2B

Variant: c.2148dup, p.Leu717Alafs3X

HGVS: NM_000419.5:c.2148dup

ClinVar: 627273

CAID: CA915940304

gnomAD: Absent

Variant: c.1234G>A, p.Gly412Arg

HGVS: NM_000419.5:c.1234G>A

ClinVar: 381748

CAID: CA8603182

gnomAD: 0.00003236, https://gnomad.broadinstitute.org/variant/chr17-44381038-C-T?dataset=gnomad_r4