| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2587 | CERS1 | Zornitza Stark Marked gene: CERS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2587 | CERS1 | Zornitza Stark Gene: cers1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2587 | CERS1 | Zornitza Stark Classified gene: CERS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2587 | CERS1 | Zornitza Stark Gene: cers1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2562 | CERS1 |
Sangavi Sivagnanasundram gene: CERS1 was added gene: CERS1 was added to Mendeliome. Sources: Literature 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, MONDO:0020074 Review for gene: CERS1 was set to GREEN Added comment: Addition of this gene to the Mendeliome - review taken from Genetic Epilepsy Panel "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" Classified as MODERATE by ClinGen Epilepsy GCEP on 16/07/2024 - https://search.clinicalgenome.org/CCID:008331 Sources: Literature |
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