54-year old female patient with well characterized GT
Case1: 54 year old, Female
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0003540, HP:0031126
(Defective platelet aggregation, impaired clot retraction)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: Flow cytometry showed significantly reduced (6-7%) surface expression levels of both aplhaIIb and beta3.
PlateletAggregation: Light transmission aggregometry in platelet-rich plasma demonstrated an impaired platelet aggregation with all agonists (arachidonic acid, thromboxane receptor agonist U46619, ADP, collagen, epinephrine) except ristocetin.
CasePreviousTesting: N/A
Gene: ITGB3
Variant: NM_000212.2:c.1407dup (p.Asn470Ter) and NM_000212.2:c.1814G>A (p.Gly605Asp)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA400032596 (p.Gly605Asp) and CA915940250 (p.Asn470Ter)
gnomAD: N/A