Arrhythmogenic cardiomyopathy

Gene: RYR2

Amber List (moderate evidence)

RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 12 panels

9 reviews

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 1:28 p.m. | Last Modified: 2 Dec 2019, 1:28 p.m.
Panel Version: 1.45

James Eden (Manchester)

I don't know

RYR2 (whole gene) is associated with ARVD and CPVT on OMIM. Not currently tested in Manchester for ARVC. Some literature associating RYR2 variants with ARVC.
Created: 27 Sep 2019, 9:19 a.m. | Last Modified: 27 Sep 2019, 9:19 a.m.
Panel Version: 1.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Arrhythmogenic right ventricular dysplasia 2 600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 604772

Publications

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton ACM Panel. Exon 3 deletion associated with ARVC phenotype as well as CPVT, therefor appropriate for this panel
Created: 18 Sep 2019, 10:31 p.m. | Last Modified: 18 Sep 2019, 10:31 p.m.
Panel Version: 1.36

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Whittington (South West GLH)

Red List (low evidence)

Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Created: 25 Mar 2019, 4:30 p.m.
PubMED: 29567486 - core gene. Lots of entries on HGMDPro for CPVT as considered to be the main gene. Reported C5 RYR2 assoc with short QT. Multiple variants on HGMD however pathogenicity downgraded to VUS: Pubmed: 28404607. Insufficient evidence to include.
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

Ellen McDonagh (Genomics England Curator)

I don't know

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.

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Discussed with NHS GMS cardiology specialist group 25.01.19. Only recurrent exon 3 deletion is reliably associated with ARVC.
Created: 4 Feb 2019, 7:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Arrhythmogenic right ventricular cardiomyopathy

Publications

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Bill Newman (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Caroline Wright (Genomics England Curator)

Comment when marking as ready: Lots of patient reported with ARVC/D and rare variants in RYR2
Created: 14 Feb 2016, 3:51 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • South West GLH
  • London South GLH
  • Wessex and West Midlands GLH
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Tags
deletions
OMIM
180902
Clinvar variants
Variants in RYR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to RYR2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/; 19926015; 17875969

12 Sep 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RYR2 were changed from Arrhythmogenic right ventricular dysplasia 2 to Arrhythmogenic right ventricular dysplasia 2; Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/

4 Mar 2019, Gel status: 4

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag deletions tag was added to gene: RYR2.

21 Feb 2019, Gel status: 4

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to RYR2. Mode of inheritance for gene RYR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to RYR2.

17 Jan 2019, Gel status: 3

Added New Source, Status Update

Ellen McDonagh (Genomics England Curator)

Source Wessex and West Midlands GLH was added to RYR2. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Feb 2016, Gel status: 3

Set publications

Caroline Wright (Genomics England Curator)

Publications for RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RYR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list

13 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RYR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RYR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR2 was added to Arrhythmogenic Right Ventricular Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert list