| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2027 | ATP5E | Zornitza Stark Marked gene: ATP5E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2027 | ATP5E | Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2027 | ATP5E | Zornitza Stark Classified gene: ATP5E as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2027 | ATP5E | Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2019 | ATP5E |
Lilian Downie gene: ATP5E was added gene: ATP5E was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5E were set to PMID: 34954817, PMID: 22231385 Phenotypes for gene: ATP5E were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Review for gene: ATP5E was set to AMBER Added comment: Reviewed as included on the review list for genetic epilepsy 2/3 patients had seizures in the paper PMID 34954817 1 type not specified, the 2nd GTCS 1 patient in PMID: 22231385, no seizures no new evidence Sources: Expert list |
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