Case1: Patient OK, gender, age, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia type I

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding symptoms were evaluated by examining available hospital records. Mild bleeders were defined as those who had minor symptoms, such as epistaxis or gum bleeds, and moderate bleeders suffered, in addition, from bleeding complications after surgery and trauma. Severe bleeders were defined as those with a history of spontaneous or life-threatening hemorrhages, such as gastrointestinal bleeding, or who had repeated episodes requiring platelet transfusion. See Table 1.

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: See Table 6

PlateletAggregation: See Table 6

CasePreviousTesting: To ascertain the mutations, we sequenced the coding regions of the αIIb and β3 subunits including the exon/intron boundaries

Gene: ITGA2B

Variant: NM_000419.3:c.620C>T (p.T207I)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805570

gnomAD: N/A

Case3: Patient Frankfurt I (can be found in the GT database)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0006298 Prolonged bleeding after tooth extraction

CaseHPOFreeText: Blood transfusions were needed

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: 24% GPIIIa and GPIIb surface expression

PlateletAggregation: N/A

CasePreviousTesting: N/A

Gene: ITGA2B

Variant: NM_000419.3:c.620C>T (p.Thr207Ile)

LegacyVariant: (p.Thr176Ile)

ClinVar: N/A

CAiD: CA399805570

gnomAD: N/A

PreviouslyPublished: PMID: 1602006