24.
Case24: Male, age not specified
DiseaseAssertion: Glanzmann thrombasthenia type 1
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: Severe bleeding (See Table 1 for Clinical and Biological Data-- minimal information)
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: N/A
PlateletAggregation: Minimal information, not specific enough
CasePreviousTesting: Sanger sequencing identified disease-causing variants in 18 out of 20 patients (Probands 6 and 14 excluded) with istoantibodies to αIIbβ3. The mutations were evenly distributed between ITGB3 and ITGA2B.
Gene: ITGB3
Variant: NM_000212.2:c.1619G>A (p.Gly540Asp)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA400030071
gnomAD: N/A