Supplementary Table S1 & S2 Proband and Variant Information:

Case9: GT10, Male, 45, French and Italian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Mild lifelong bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed 30-50% variant expression of αIIbβ3 (See Supplementary Table 1)

PlateletAggregation: Residual platelet aggregation (See Supplementary Table 1)

CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3

Gene: ITGA2B

Variant: NM_000419.3:c.1440-13_1440-1del (p.Arg480Serfs*106) and NM_000419.3:c.3077G>A (p.Arg1026Gln)

LegacyVariant: N/A

ClinVar: 50232

CAiD: CA913184940 and CA10575572

gnomAD: MAF in the European (non-Finnish) population 0.00006482 http://gnomad.broadinstitute.org/variant/17-45363676-T-C and MAF in the European (non-Finnish) population is 0.000008801 http://gnomad.broadinstitute.org/variant/17-42449775-C-T

Case1: (Patient A.P) Male, 21 years old, Italian)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Biocurator should see Table 1, if any important info to be obtained from here

CasePresentingHPOs: HP:0000421, HP:0000225, HP:0000967, HP:0002249

(Epistaxis, gingival bleeding, petechiae, melena)

CaseHPOFreeText: Hematoma

CaseNotHPOs: N/A

ProteinExpression: As detailed earlier, the main features of A.P.’s platelets are a total αIIbβ3 content that is about half that observed with normal platelets yet with a surface expression that is sparse compared with the size of the internal pool --> observed decrease of αIIbβ3 on the surface of his platelets (approximately 15% of normal levels)

Platelet Aggregation: Aggregation remained defective when ADP was added to PRP anti-coagulated with heparin, and when measured in citrated whole blood by impedance aggregometry in response to ADP, collagen, and arachidonic acid. When ADP was added to washed platelets together with fibrinogen, the aggregation response was somewhat improved. An improved aggregation response was also seen when washed platelets were incubated with collagen (not shown). However, with a-thrombin, a slow and irreversible aggregationwas again observed.

CasePreviousTesting: PCR SSCP of ITGA2B and ITGB3 "To define the genetic defect responsible for the disease, we performed an extensive analysis of the exons of the αIIb and β3 genes using nonradioactive PCR-SSCP methodology developed in our laboratory."

Gene: ITGA2B

Variant: NM_000419.3:c.3077G>A (p.Arg1026Gln)

LegacyVariant: (p.Arg995Gln)

ClinVar: 50232

CAiD: CA10575572

gnomAD MAF in the European (non-Finnish) population is 0.000008801https://gnomad.broadinstitute.org/variant/17-42449775-C-T

PreviouslyPublished: PMID: 1638023

Case22: Patient AP, gender and age are not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0000225, HP:0006298

(Epistaxis, gingival bleeding, prolonged bleeding after tooth extraction)

CaseHPOFreeText: Hematoma

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: 12-20% GPIIIa and GPIIb surface expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.3077G>A (p.Arg1026Gln) other mutation was not found

LegacyVariant: N/A

ClinVar: 50232

CAiD: CA10575572

gnomAD: MAF in the European (non-Finnish) population is 0.000008801 https://gnomad.broadinstitute.org/variant/17-42449775-C-T

PreviouslyPublished: References 37 and 38