Early onset or syndromic epilepsy

Gene: RYR2

Green List (high evidence)

Among 292 cases with Benign Epilepsy of Childhood With Centrotemporal Spikes 5 individuals were found to have de novo (n=3) or bialleleic variants (n=2). Enough evidence to classify as green.

Created: 30 May 2022, 8:48 a.m. | Last Modified: 30 May 2022, 8:48 a.m.

Panel Version: 2.530

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Benign Epilepsy of Childhood With Centrotemporal Spikes

Publications

• PMID: 33897349

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

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

• 18483626

I don't know

PMID: 33897349 reports seven RYR2 variants in five unrelated cases of benign epilepsy of childhood with centrotemporal spikes (BECTS). Three of the affected individuals (cases 1,2 & 3) were heterozygous for a RYR2 variant, in one case (case 2) the variant was de novo and in the remaining cases RYR2 variant had been inherited from an unaffected parent. The remaining two individuals (cases 4 & 5) were compound heterozygous inheriting the RYR2 variants from each parent, who were unaffected apart form the father of case 5, who had arrhythmia.

Created: 7 Jun 2022, 1:28 p.m. | Last Modified: 7 Jun 2022, 1:28 p.m.

Panel Version: 2.531

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

• 33897349