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GENATLAS PHENOTYPE

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

Remark(s)

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))