| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1276 | MAPK8IP3 | Zornitza Stark Marked gene: MAPK8IP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1276 | MAPK8IP3 | Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1276 | MAPK8IP3 | Zornitza Stark Classified gene: MAPK8IP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1276 | MAPK8IP3 | Zornitza Stark Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1275 | MAPK8IP3 |
Elena Savva gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8IP3 were set to PMID: 30612693 Phenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities MIM#618443 Review for gene: MAPK8IP3 was set to AMBER Added comment: 5/13 patients had generalized seizures, but for 3/13 it was a single event, 1/13 it was recurrent. All individuals had missense variants. Sources: Literature |
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