| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2308 | TWNK | Elena Savva Classified gene: TWNK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2308 | TWNK | Elena Savva Gene: twnk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2307 | TWNK | Elena Savva Marked gene: TWNK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2307 | TWNK | Elena Savva Gene: twnk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2307 | TWNK |
Elena Savva gene: TWNK was added gene: TWNK was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to PMID: 19304794 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Review for gene: TWNK was set to GREEN Added comment: PMID: 19304794 - reviews, notes epilepsia partialis continua occurred in 15 patients leading to generalized epileptic statuses in 13/15. Probands had biallelic variants OMIM lists Seizures (uncommon) as a phenotype for AD disease Sources: Literature |
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