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GENATLAS PHENOTYPE

last update : 02-12-2013

Symbol	VTSIP2
Location	1q42.1-q43
Name	ventricular tachycardia, catecholaminergic polymorphic 2
Other name(s)	ventricular tachycardia, stress-induced, polymorphic
Corresponding gene	CASQ2
Other symbol(s)	PVT, CPVT2
Main clinical features	syncope seizures or sudden death catecholaminergic polymorphic ventricular tachycardia (CPVT), and also bradycardia and atrial arrhythmias
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
Type	disease

Gene product

Name	calsequestrin 2

Remark(s)

loss of CASQ2 causes abnormal sarcoplasmic reticulum Ca2+ release and selective interstitial fibrosis in the atrial pacemaker complex, which disrupt sinoatrial node (SAN) pacemaking but enhance latent pacemaker activity, create conduction abnormalities and increase susceptibility to atrial fibrillation (AF) (PMID: 24216388))