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last update : 14-05-2019
Symbol LQT15
Location 2p21
Name long QT syndrome 15
Corresponding gene CALM2
Main clinical features
  • fetal bradycardia, sinus bradycardia, T-wave alternans, markedly prolonged QT, with episode of syncope
  • in any cases association with hypertrophic cardiomyopathy
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
  • mutations leading to a disruption of Ca2+/calmodulin (CaM)-dependent inactivation of L-type Ca2+ channels (PMID: 27765793))
  • mutation p.Asn98Ser is associated with sudden cardiac death in childhood with a variable clinical penetrance (PMID: 27100291))