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GENATLAS PHENOTYPE

last update : 14-05-2019

Symbol	LQT14
Location	14q32.11
Name	long QT syndrome 14
Corresponding gene	CALM1
Main clinical features	frequent cardiac arrest in infancy with markedly prolonged QTc intervals and multiple episodes of ventricular fibrillation sudden cardiac death is frequently presents as the first clinical manifestation of Long QT (PMID: 24076290))
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))