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GENATLAS PHENOTYPE

last update : 14-05-2019

Symbol	LQT16
Location	19q13.32
Name	long QT syndrome 16
Corresponding gene	CALM3
Main clinical features	fetal bradycardia with a very long QT interval; early-onset LQTS, calmodulinopathy in the majority of cases, a ventricular arrhythmia is described, with ventricular fibrillation identified
Genetic determination	not applicable
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))