| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2305 | TSEN15 | Elena Savva Marked gene: TSEN15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2305 | TSEN15 | Elena Savva Gene: tsen15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2305 | TSEN15 | Elena Savva Classified gene: TSEN15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2305 | TSEN15 | Elena Savva Gene: tsen15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2304 | TSEN15 |
Elena Savva gene: TSEN15 was added gene: TSEN15 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSEN15 were set to PMID: 27392077 Phenotypes for gene: TSEN15 were set to Pontocerebellar hypoplasia, type 2F MIM#617026 Review for gene: TSEN15 was set to AMBER Added comment: Few patients reported with disease for this gene PMID: 27392077 - 2/4 probands had seizures, onset <1 year old. Probands had homozygous missense, none had homs in v4 gnomAD. Functional studies support missense pathogenicity. Sources: Literature |
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