| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1389 | RYR3 | Zornitza Stark Marked gene: RYR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1389 | RYR3 | Zornitza Stark Gene: ryr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1388 | RYR3 | Bryony Thompson Classified gene: RYR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1388 | RYR3 | Bryony Thompson Gene: ryr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1387 | RYR3 |
Bryony Thompson gene: RYR3 was added gene: RYR3 was added to Genetic Epilepsy. Sources: ClinGen Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR3 were set to 25262651 Phenotypes for gene: RYR3 were set to undetermined early-onset epileptic encephalopathy (MONDO:0018614) Review for gene: RYR3 was set to AMBER Added comment: 2 probands with different de novo missense variants in a single publication. Classified as Limited by ClinGen Epilepsy GCEP - Classification - 06/19/2018. Sources: ClinGen |
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