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GENATLAS PHENOTYPE
last update : 21-11-2016
Symbol BRGS4
Location 10p12
Name Brugada syndrome 4
Other name(s)
  • right bundle branch block, ST segment elevation, and sudden death syndrome
  • sudden unexplained nocturnal death syndrome
    • Corresponding gene CACNB2
    Other symbol(s) SUNDS, BRGDA4
    Main clinical features
  • arrhythmogenic disease characterized by an ECG pattern of ST-segment elevation in the right precordial leads
  • increased risk of cardiac arrhythmia and sudden death (Hedley 2009)
    • Genetic determination autosomal dominant
    Related entries BRGS1-3
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name member of the voltage-gated calcium channel gene superfamily
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     S481L
    Remark(s)
    Genotype/Phenotype correlations shortened QT interval on ECG