Case3: Male, Iraq, age not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: Table 1 mentions family history available for the proband, however no specific details about family provided in paper

ParentalGenotype: N/A

CasePresentingHPOs: HP:0030137, HP:0000421, HP:0000225, HP:0031364, HP:0002249

(Prolonged bleeding following circumcision, epistaxis, ecchymosis, melena)

CaseHPOFreeText: Haematemesis

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: N/A

CasePreviousTesting: N/A

Gene: ITGB3

Variant: HGVS nomenclature not available. p.Val721Cysfs*33

LegacyVariant: p.Val695Cysfs*33

ClinVar: 13563

CAiD: N/A

gnomAD: N/A

2:20-3:30

Case2: 9 years old, Female, Jewish Iraqi

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0004406

(Recurrent epistaxis)

CaseHPOFreeText: Mucocutaneous bleeding

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: All patients demonstrated lack of αIIbβ3 surface expression." No specifics are given on the percentage, but test was performed

PlateletAggregation: Presented with mucocutaneous bleeding, absence of platelet aggregation in response to all physiological agonists in contrast to normal aggregation with ristocetin

CasePreviousTesting: "Molecular analysis disclosed that patient 2 was homozygous for an out of frame mutation (c.2031–2041 del, exon 13) in ITGB3, and patient 4 was compound heterozygote for the same deletion and a large deletion of 11.2Kb del"

Gene: ITGB3

Variant: NM_000212.2:c.2031_2041del (p.Asp677Glufs) and 11.2Kb del (IVS9aluc.2183–6)

LegacyVariant: N/A

ClinVar: N/A and 13563

CAiD: CA915940605 and NA

gnomAD: N/A