Genetic epilepsy syndromesGene: RYR3
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: John Taylor and Helen Lord. 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
Not associated with a phenotype on OMIM. Reviews from panel app: Euro epinomics-res consortium, 2014 - 356 trios with classic EIEE - 2 de novo variants in RYR3 identified, they say in the paper that this provides suggestive evidence for this gene. Peng et al, 2018 - 56 Chinese families with West syndrome (classic form of EIEE) - AR - 2 diff missense variants identified.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
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.
Created: 8 Nov 2018, 1:40 p.m.
Comment on mode of inheritance: MOI based on report in PMID 29667327
Created: 8 Nov 2018, 12:43 p.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 4:21 p.m.
Source Wessex and West Midlands GLH was added to RYR3.
Source NHS GMS was added to RYR3.
Ellen McDonagh: Gene added in expert review of
Gene: ryr3 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: RYR3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR3 were changed from to Epileptic encephalopathy
Publications for gene: RYR3 were set to 25262651
Publications for gene: RYR3 were set to EuroEPINOMICS-RES Consortium (2014) AJHG 95:1-11
RYR3 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Red
RYR3 was created by Sarah Leigh