Paediatric or syndromic cardiomyopathy
Gene: RYR2EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 panels
2 reviews
Ivone Leong (Genomics England Curator)
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
Rebecca Whittington (South West GLH)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Green
- Phenotypes
-
- Arrhythmogenic right ventricular dysplasia 2, 600996
- Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
- OMIM
- 180902
- Clinvar variants
- Variants in RYR2
- Penetrance
- None
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1131/
- Panels with this gene
-
- Sudden death in young people
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Catecholaminergic polymorphic VT
- DDG2P
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Long QT syndrome
- Hereditary neuropathy or pain disorder
- Idiopathic ventricular fibrillation
- Arrhythmogenic right ventricular cardiomyopathy
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RYR2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)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