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| Genetic Epilepsy v0.2185 | KDM5A | Elena Savva Marked gene: KDM5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2185 | KDM5A | Elena Savva Gene: kdm5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2185 | KDM5A |
Elena Savva gene: KDM5A was added gene: KDM5A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KDM5A were set to PMID: 34210021 Phenotypes for gene: KDM5A were set to Neurodevelopmental disorder MONDO:0700092, KDM5A-related Review for gene: KDM5A was set to RED Added comment: PMID: 34210021 - large multigene deletion in a family with ID, epilepsy and schizophrenia. This gene and CACNA1C were considered the best candidates. No evidence of SNVs in this gene causing epilepsy. This gene was on the Oliver list Sources: Literature |
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