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GENATLAS PHENOTYPE
last update : 21-05-2019
Symbol LQT13
Location 11q24.3
Name long QT syndrome with ventricular tachyarrhythmia, type 13
Corresponding gene KCNJ5
Main clinical features
  • characterized by a prolongation of the QT interval on an electrocardiogram, predisposing to torsades de pointes and ventricular fibrillation
  • may result in recurrent syncope, seizure, or sudden death
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s) mutation results in a defect in channel trafficking and a reduction in the IKACh current (PMID: 20560207))