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Early onset or syndromic epilepsy v1.191 RYR3 Rebecca Foulger Source Wessex and West Midlands GLH was added to RYR3.
Early onset or syndromic epilepsy v1.190 RYR3 Rebecca Foulger Source NHS GMS was added to RYR3.
Early onset or syndromic epilepsy v1.189 RYR3 Rebecca Foulger reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Marked gene: RYR3 as ready
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.
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Gene: ryr3 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on report in PMID 29667327
Early onset or syndromic epilepsy v0.661 RYR3 Sarah Leigh Mode of inheritance for gene: RYR3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.660 RYR3 Sarah Leigh Phenotypes for gene: RYR3 were changed from to Epileptic encephalopathy
Early onset or syndromic epilepsy v0.659 RYR3 Sarah Leigh Publications for gene: RYR3 were set to 25262651
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
Early onset or syndromic epilepsy RYR3 Sarah Leigh Added gene to panel