Short QT syndrome
Gene: RYR2
Gene currently tested by alternative panel, very few short QT referrals to date. 394 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with catecholaminergic polymorphic ventricular tachycardia 1, limited association with hypertrophic cardiomyopathy (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source North West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2 Publications for gene RYR2 were changed from to 30420954; 19862833; 16301704
Sarah Leigh: Not associated with Short QT p
gene: RYR2 was added gene: RYR2 was added to Short QT syndrome. Sources: Long QT syndrome (Version 1.5) Mode of inheritance for gene: RYR2 was set to Unknown