Elderly man/France
Case4: Male (elderly), age not specified, France
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
ProteinExpression: N/A
Platelet Aggregation: N/A
CasePreviousTesting: N/A
Gene: ITGA2B
Variant: NM_000419.3:c.2348+5G>C
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA290947484
gnomAD N/A
PreviouslyPublished: 25728920
Supplementary Table S1 & S2 Proband and Variant Information:
Case7: GT8, Male, 82 at death, French
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000978, HP:0000421, HP:0002239
(Easy bruising, epistaxis, GI bleeding
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Flow cytometry showed 10-15% expression of αIIbβ3 (See Supplementary Table 1)
PlateletAggregation: Absent platelet aggregation (See Supplementary Table 1)
CasePreviousTesting: Sanger sequencing of ITGA2B and ITGB3
Gene: ITGA2B
Variant: NM_000419.3:c.2348+5G>C (p.Ser756Gly783delInsArg)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA290947484
gnomAD: N/A
GT3
Case3: (GT3) Male, 82 years old, French
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: Mucocutaneous bleeding
CaseNotHPOs: N/A
ProteinExpression: 8-10% surface expression levels of αIIbβ3
Platelet Aggregation: Absent platelet aggregation to all agonists (no mention for which agonists or response to ristocetin)
CasePreviousTesting: All the information we are given is "mutation screening of the ITGA2B and ITGB3 genes" the method for sequencing etc. was not stated
Gene: ITGA2B
Variant: NM_000419.3:c.2348+5G>C
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA290947484
gnomAD N/A