Catecholaminergic polymorphic VT

Gene: RYR2

Green List (high evidence)

RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 13 panels

7 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 18 Nov 2019, 2:58 p.m. | Last Modified: 18 Nov 2019, 2:58 p.m.
Panel Version: 1.25
Comment on mode of inheritance: MOI was corrected.
Created: 30 Sep 2019, 12:08 p.m. | Last Modified: 30 Sep 2019, 12:08 p.m.
Panel Version: 1.22

Rebecca Whittington (South West GLH)

Green List (high evidence)

Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Created: 25 Mar 2019, 4:30 p.m.
Lots of literature evidence for this gene / established gene. PMID: 26018045. PMID:26114861. PMID:19926015.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

Green List (high evidence)

Gene on Royal Brompton diagnostic panel. Definitive association with CPVT. Multiple pathogenic variants detected in our lab, including several deletions of exon 3 - CNV analysis therefore critical for this gene.
Created: 19 Mar 2019, 5:03 p.m.

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

Phenotypes
CPVT, ARVC

James Eden (Manchester)

Green List (high evidence)

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, 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

Teofila (Tootie) Bueser (King's College Hospital and Guy's & St Thomas' Hospital)

Green List (high evidence)

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

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.
Comment when marking as ready: Two green reviews, plus on an addition published panel. Mode of inheritance confirmed in OMIM.
Created: 18 Jul 2016, 3:08 p.m.
On the Inherited Cardiac Condition Genes panel for Catecholaminergic polymorphic ventricular tachycardia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 178.
Created: 19 Feb 2016, 11:31 a.m.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Catecholaminergic polymorphic ventricular tachycardia
  • catecholaminergic polymorphic ventricular tachycardia
OMIM
180902
Clinvar variants
Variants in RYR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Sep 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RYR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Sep 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RYR2 were set to 27761157; 19121813

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 BIALLELIC, autosomal or pseudoautosomal

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to RYR2.

14 Feb 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Ellen McDonagh (Genomics England Curator)

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 to 27761157; 19121813 Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.

18 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Eligibility statement prior genetic testing

13 Jul 2015, Gel status: 4

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: 4

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: 4

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: 4

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: 4

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: 4

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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list

13 Jul 2015, Gel status: 4

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: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RYR2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,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 Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,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 Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,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 Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list