Case1: Female, 56 years old, Algerian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406, HP:0000132

(Recurrent epistaxis, menorrhagia)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: No platelet αIIbβ3 expression (mentioned briefly in abstract)

PlateletAggregation: The patient shows all the typical signs of GT with no platelet aggregation in response to physiologic agonists and an absence of clot retraction. No mention of ristocetin

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: p.Glu324Lys

ClinVar: 2899

CAiD: CA115844

gnomAD: MAF in European (non-Finnish population 0.00001978 http://gnomad.broadinstitute.org/variant/17-42461008-C-T

PreviouslyPublished: Proband 9 in PMID: 2180491

Case2: Female, 67 years old, Japanese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A per Table 1

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Prolonged ivy bleeding times, bleeding diathesis since early childhood

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Surface expression of αIIbβ3 was analyzed by flow cytometry which was < 5% of normal

PlateletAggregation: Aggregation in response to ADP, epinephrine and collagen was absent but normal in response to ristocetin

CasePreviousTesting: Nucleotide sequences of the αIIb and β3 coding regions were determined by direct sequencing of RT-PCR products from platelet RNA.

Gene: ITGA2B

Variant: NM_000419.3:c.1063G>A (p.Glu355Lys)

LegacyVariant: (p.Glu324Lys)

ClinVar: 2899

CAiD: CA115844

gnomAD: MAF in the European (non-Finnish) population is 0.00001978 https://gnomad.broadinstitute.org/variant/17-42461008-C-T