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Genetic epilepsy syndromes

Gene: RYR2

Amber List (moderate evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Insufficient evidence, phenotype appears to be associated with ventricular tachycardia.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in cases displaying seizures (PMIDs 29667327), together with a mouse model (PMID 18483626). However, there are numerous cases of Ventricular tachycardia, catecholaminergic polymorphic, 1 604772, with no reports of seizures (PMIDs 11208676, 12093772, 11157710), therefore seizures appear to be a rare feature of this condition.
Sources: Literature
Created: 8 Nov 2018, 11:28 a.m.

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

Phenotypes
Ventricular tachycardia, catecholaminergic polymorphic, 1 604772

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
OMIM
180902
Clinvar variants
Variants in RYR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to RYR2.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RYR2.

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ryr2 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RYR2 were set to 27832686; 18483626; 29667327; 11208676; 12093772; 11157710

8 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ryr2 has been classified as Amber List (Moderate Evidence).

8 Nov 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: RYR2 was added gene: RYR2 was added to Genetic Epilepsy Syndromes. Sources: Literature Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 27832686; 18483626; 29667327; 11208676; 12093772; 11157710 Phenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 Review for gene: RYR2 was set to AMBER