Case1: Female, 27 years old, Danish

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Information on father, mother, brother and sister. (See Figure 1 for pedigree)

ParentalGenotype: Pedigree from Figure 1 shows Father to have (p.Asn331Ser) and mother has (p.Arg786Trp) variant.

CasePresentingHPOs: HP:0000978, HP:0001934, HP:0006298

(Bruising, prolonged bleeding after minor trauma, prolonged bleeding after dental extraction)

CaseHPOFreeText: Lifelong bleeding history

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: αIIbβ3 expression and activation and αvβ3 expression were assessed by flow cytometry (See Figure 1 and 2 for results)

PlateletAggregation: Platelet aggregation was impaired in response to all stimuli except ristocetin, with low-normal response to collagen

CasePreviousTesting: To identify DNA variants, all exons of ITGA2B and ITGB3 were analyzed by Sanger sequencing

Gene: ITGB3

Variant: NM_000212.2:c.2356C>T (p.Arg786Trp) an NM_000212.2:c.992A>G (p.Asn331Ser)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA400034866 (p.Arg786Trp) and CA400025729 (p.Asn331Ser)

gnomAD: MAF for (p.Arg786Trp) in the African population is 0.000 https://gnomad.broadinstitute.org/variant/17-45387559-C-T