Case2: Female, 28 years old, ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia type 1

FamilyInfo: N/A

ParentalGenotype: Parents were heterozygous for this mutation and did not show bleeding symptoms

Note: There is parental consanguinity

CasePresentingHPOs: N/A

CaseHPOFreeText: Severe haemorrhagia and haematomas associated with prolonged in vivo bleeding time

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry analysis revealed 3.5 % of αIIbβ3 was detected on the platelet surface from patient 2.

PlateletAggregation: Article states agonist-induced platelet aggregation and binding of exogenous fibrinogen was pathological, too but does not mention specific agonists used or response to ristocetin

CasePreviousTesting: Molecular genetic analysis was done; however, no other information mentioned. In addition, the global proteome of highlight purified washed platelets was quantified by liquid chromatography-mass spectrometry and targeted MS-methods.

Gene: ITGA2B

Variant: NM_000419.3:c.2374del

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940267

gnomAD: N/A

Case1: GT-1, Turkish, gender or age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: Mother: c.2374delG heterozygous and Father: c.2374delG heterozygous

CasePresentingHPOs: N/A

CaseHPOFreeText: Bleeding symptoms are severe and bleeding time is pathogenic (See Table 1) Abstract mentions patients' bleeding signs include epistaxis, mucocutaneous bleeding, haematomas, petechiae, GI bleeding and menorrhagia; however, not specified per proband.

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Flow cytometry was performed and expression is stated as pathogenic in Table 1

PlateletAggregation: Platelet aggregation was performed and is stated as pathogenic in Table 1; however, no specific agonists mentioned

CasePreviousTesting: All exons of ITGA2B and ITGB3 genes as well as surrounding intron regions were amplified by PCR using intronic primers as pre-viously described (12). The purified DNA fragments were then di-rectly sequenced.

Gene: ITGA2B

Variant: NM_000419.3:c.2374del

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA915940267

gnomAD: N/A