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Early onset or syndromic epilepsy v7.70 RYR3 Sarah Leigh Added comment: Comment on publications: PMID: 39220738 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Early onset or syndromic epilepsy v7.70 RYR3 Sarah Leigh Publications for gene: RYR3 were set to 25262651; 29667327; 29498452; 31230720; 39220738; 39840699
Early onset or syndromic epilepsy v7.69 RYR3 Sarah Leigh Phenotypes for gene: RYR3 were changed from Epileptic encephalopathy to idiopathic(non-lesional) partial epilepsy/susceptibility of seizures
Early onset or syndromic epilepsy v7.68 RYR3 Sarah Leigh edited their review of gene: RYR3: Changed phenotypes to: idiopathic(non-lesional) partial epilepsy/susceptibility of seizures
Early onset or syndromic epilepsy v7.68 RYR3 Sarah Leigh Classified gene: RYR3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v7.68 RYR3 Sarah Leigh Gene: ryr3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v7.67 RYR3 Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: RYR3.
Early onset or syndromic epilepsy v7.67 RYR3 Sarah Leigh edited their review of gene: RYR3: Added comment: Previously there have been four reports of seizures in patients with biallelic RYR3 variants (PMID: 25262651; 29667327; 39220738). Using a cohort of patients with idiopathic(non-lesional) partial epilepsy/susceptibility of seizures, authors of PMID: 39840699 report thirteen RYR3 variants in seven cases. In all but one of the cases, the variants are compound heterozygotes, with the remaining case having a de novo heterozygous RYR3 variant. Seizure onset was in childhood (1 to 7 years), brain MRIs were normal in all cases, there was no evidence of myopathy and there was a single case of intellectual disability (table 1, PMID: 39840699).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v7.67 RYR3 Sarah Leigh Publications for gene: RYR3 were set to 25262651; 29667327; 39220738; 39840699
Early onset or syndromic epilepsy v7.66 RYR3 Sarah Leigh Publications for gene: RYR3 were set to 25262651; 29667327
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