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| Genetic Epilepsy v0.564 | CERS1 | Zornitza Stark Marked gene: CERS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.564 | CERS1 | Zornitza Stark Gene: cers1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.564 | CERS1 | Zornitza Stark Classified gene: CERS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.564 | CERS1 | Zornitza Stark Gene: cers1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.561 | CERS1 |
Bryony Thompson gene: CERS1 was added gene: CERS1 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS1 were set to 24782409; 21625621; 30800706 Phenotypes for gene: CERS1 were set to Epilepsy, progressive myoclonic, 8 MIM#616230 Review for gene: CERS1 was set to GREEN Added comment: Two unrelated families with PME identified, and functional assays in vitro and in patient cells demonstrating impaired ceramide biosynthesis. Mouse model shows neurodegeneration and lipofuscin accumulation. Sources: Expert list |
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