Case1: Female, 6 years old, Chinese

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Pedigree available (See Figure 1)

ParentalGenotype: Parents are non-symptomatic

CasePresentingHPOs: HP:0000421 (Epistaxis)

CaseHPOFreeText: Mucocutaneous hemorrhages

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry showed that GPIIb and GPIIIa were significantly reduced in the patient indicating type 1 GT. (See Figure 2 for data)

PlateletAggregation: Platelet aggregation in response to ADP, collagen, adrenaline, thrombin and arachidonic acid was markedly decreased compared to that of controls, while ristomycin induced platelet aggregation was normal

CasePreviousTesting: DNA was extracted, all coding regions of the ITGA2B and ITGB3 genes were amplified by PCR using primers. PCR products were electrophoresed on agarose gel and then purified. Purified DNA samples were labeled and then analyzed using an automated sequencer

Gene: ITGA2B

Variant: NM_000419.3:c.2930del and c.1544-1delG (not registered)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940386

gnomAD: N/A

Case5: Patient DRP, gender and age are not specified, all of these patients are Caucasian (either Italian or European)

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: All patients presented with a current or past history of bleeding and a bleeding time >15 min. Bleeding symptoms were evaluated by examining available hospital records. Mild bleeders were defined as those who bled only after trauma or surgery or had minor symptoms, such as epistaxis. Moderate/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 transfusions

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: See Table 1

PlateletAggregation: See Table 1

CasePreviousTesting: To identify point mutations responsible for GT, we have sequenced all coding regions of Ib and 3 genes and intron/exon boundaries.

Gene: ITGA2B

Variant: This variant has a typo in the paper the real variant is this: NM_000419.3:c.800 G>A and NM_000419.3:c.2930del

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA399805147 and CA915940386

gnomAD: N/A