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DDG2P

Gene: RYR2

Red List (low evidence)
RYR2 (ryanodine receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000198626
EnsemblGeneIds (GRCh37): ENSG00000198626
OMIM: 180902, Gene2Phenotype
RYR2 is in 14 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability are limited, monoallelic_autosomal and undetermined (PMIDs: 11157710, 15544013, 15544015, 15720454, 16084945, 16188589, 16272262, 17875969, 19781797, 19926015, 21126784, 21652165, 22222782, 22334434, 22519458, 30170228). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03201.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 30170228).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability; RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: RYR2 was changed from Other to None

4 Oct 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RYR2 was added gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30170228 Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability Mode of pathogenicity for gene: RYR2 was set to Other