Catecholaminergic polymorphic VT

Gene: RYR2

Green List (high evidence)

Comment on phenotypes: This gene is also associated with Arrhythmogenic right ventricular dysplasia 2 (600996)

Created: 2 Mar 2021, 1:02 p.m. | Last Modified: 2 Mar 2021, 1:02 p.m.

Panel Version: 2.13

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

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

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

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

• 19121813
• 27761157
• 16391617

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

Green List (high evidence)

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

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.

Green List (high evidence)

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