| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2181 | KANSL1 | Elena Savva Classified gene: KANSL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2181 | KANSL1 | Elena Savva Gene: kansl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2180 | KANSL1 | Elena Savva Marked gene: KANSL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2180 | KANSL1 | Elena Savva Gene: kansl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2180 | KANSL1 |
Elena Savva gene: KANSL1 was added gene: KANSL1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KANSL1 were set to PMID: 28440867 Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome MIM#610443 Review for gene: KANSL1 was set to GREEN Added comment: GeneReviews: describes seizures/epilepsy as a less common trait, where OMIM notes its in 50% of cases. PMID: 28440867 - Median age at seizure onset was 3.5 years, and 9 of 22 had refractory seizures 2 years after onset. Focal impaired awareness seizures were the most frequent seizure type occurring in 20 of 31, usually with prominent autonomic features. Sources: Literature |
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