Molecular autopsy
Gene: RYR2
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 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, NOT imprinted
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 London South GLH was added to RYR2.
Source North West GLH was added to RYR2. Added phenotypes Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) for gene: RYR2 Publications for gene RYR2 were changed from doi:10. 1007/ s12265-016-9673-5; 21126784 to 27761157; 19121813; 19862833; 30420954; 16301704
Phenotypes for gene: RYR2 were changed from Ventricular tachycardia, catecholaminergic polymorphic, 1; CPVT; catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular dysplasia 2; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Long QT syndrome; Catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular cardiomyopathy to Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; CPVT; catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular dysplasia 2, 600996; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Long QT syndrome; Catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular cardiomyopathy
Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes CPVT for gene: RYR2
Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1; Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome; Catecholaminergic polymorphic ventricular tachycardia; catecholaminergic polymorphic ventricular tachycardia for gene: RYR2 Publications for gene RYR2 were changed from http://www.ncbi.nlm.nih.gov/books/NBK1131/ to doi:10. 1007/ s12265-016-9673-5; 21126784
gene: RYR2 was added gene: RYR2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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; Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy