Cardiomyopathies - including childhood onsetGene: RYR2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Arrhythmogenic right ventricular dysplasia 2 OMIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 OMIM#604772.
Created: 25 Mar 2019, 4:30 p.m.
Key gene for CPVT and to some extent ARVC. HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM. CPVT is associated with paediatric onset as shown in examples on OMIM.
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to RYR2.
gene: RYR2 was added gene: RYR2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/ Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2, 600996; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy