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| Genetic Epilepsy v0.2212 | SMARCE1 | Elena Savva Marked gene: SMARCE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2212 | SMARCE1 | Elena Savva Gene: smarce1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2212 | SMARCE1 |
Elena Savva gene: SMARCE1 was added gene: SMARCE1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCE1 were set to PMID: 30548424 Phenotypes for gene: SMARCE1 were set to Coffin-Siris syndrome 5 MIM#616938 Review for gene: SMARCE1 was set to RED Added comment: PMID: 30548424 - Proband with a de novo splice variant (proven to result in inframe exon skipping), presented with seizures, hypotonia, GDD, ataxia etc. No other literature showing SNVs in this gene and epilepsy/seizures. Gene was listed in the Oliver review Sources: Literature |
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