Genomics England
GMS Panels
Panels
Genes and Entities

CASQ2

calsequestrin 2
OMIM: 114251
PanelMode of inheritanceDetails
1 panel
Green
in Catecholaminergic polymorphic VT
Component of the following Super Panels:
  • - Cardiac arrhythmias
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R129
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938