| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v2.20 | GSK3B | Rylee Peters Marked gene: GSK3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v2.20 | GSK3B | Rylee Peters Gene: gsk3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v2.20 | GSK3B | Rylee Peters Classified gene: GSK3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v2.20 | GSK3B | Rylee Peters Gene: gsk3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v2.19 | GSK3B |
Rylee Peters gene: GSK3B was added gene: GSK3B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GSK3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GSK3B were set to 39472663 Phenotypes for gene: GSK3B were set to Neurodevelopmental disorder, MONDO:0700092, GSK3B-related Review for gene: GSK3B was set to AMBER Added comment: PMID: 39472663 reports >10 individuals with heterozygous loss‑of‑function GSK3B variants (stopgain, frameshift, splice, missense, CNV) causing a neurodevelopmental disorder characterised by autism spectrum disorder (8/13), intellectual disability (mild-severe 11/14), speech (14/15) and motor delay (8/13) as well as epilepsy 2/12, seizure 2/13. Sources: Literature |
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