| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Early onset or syndromic epilepsy v2.531 | RYR2 | Sarah Leigh edited their review of gene: RYR2: Added comment: 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.; Changed publications to: 33897349 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.531 | RYR2 | Sarah Leigh Publications for gene: RYR2 were set to 18483626; 29667327; 11208676; 12093772; 11157710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.530 | RYR2 | Dmitrijs Rots reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33897349; Phenotypes: Benign Epilepsy of Childhood With Centrotemporal Spikes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.191 | RYR2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to RYR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.190 | RYR2 | Rebecca Foulger Source NHS GMS was added to RYR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | RYR2 | Rebecca Foulger reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | RYR2 | Tracy Lester reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: 18483626; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RYR2 | Sarah Leigh Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.1532 | RYR2 | Sarah Leigh Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.658 | RYR2 | Sarah Leigh Publications for gene: RYR2 were set to 27832686; 18483626; 29667327; 11208676; 12093772; 11157710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.657 | RYR2 | Sarah Leigh Classified gene: RYR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.657 | RYR2 | Sarah Leigh Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.656 | RYR2 |
Sarah Leigh 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 Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 3 variants identified in cases displaying seizures (PMIDs 29667327 & 18483626), together with a mouse model (PMID 27832686). 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||