06 Aug 2019
Early onset or syndromic epilepsy v1.191
RYR3
Rebecca Foulger Source Wessex and West Midlands GLH was added to RYR3.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
RYR3
Rebecca Foulger Source NHS GMS was added to RYR3.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
RYR3
Rebecca Foulger reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
RYR3
Tracy Lester reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unkown; Mode of inheritance: Unknown
08 Nov 2018
Early onset or syndromic epilepsy v0.661
RYR3
Sarah Leigh Marked gene: RYR3 as ready
08 Nov 2018
Early onset or syndromic epilepsy v0.661
RYR3
Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM (lasted edited 01/25/2005) or in Gen2Phen. Four variants reported in four cases, but with little supportive evidence for association with Epileptic encephalopathy.
08 Nov 2018
Early onset or syndromic epilepsy v0.661
RYR3
Sarah Leigh Gene: ryr3 has been classified as Red List (Low Evidence).
08 Nov 2018
Early onset or syndromic epilepsy v0.661
RYR3
Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on report in PMID 29667327
08 Nov 2018
Early onset or syndromic epilepsy v0.661
RYR3
Sarah Leigh Mode of inheritance for gene: RYR3 was changed from to BIALLELIC, autosomal or pseudoautosomal
08 Nov 2018
Early onset or syndromic epilepsy v0.660
RYR3
Sarah Leigh Phenotypes for gene: RYR3 were changed from to Epileptic encephalopathy
08 Nov 2018
Early onset or syndromic epilepsy v0.659
RYR3
Sarah Leigh Publications for gene: RYR3 were set to 25262651
08 Nov 2018
Early onset or syndromic epilepsy v0.638
RYR3
Sarah Leigh Publications for gene: RYR3 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
04 Apr 2018
Early onset or syndromic epilepsy
RYR3
Sarah Leigh Added gene to panel