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| Genetic Epilepsy v0.2189 | KMT2B | Elena Savva Marked gene: KMT2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2189 | KMT2B | Elena Savva Gene: kmt2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2189 | KMT2B |
Elena Savva gene: KMT2B was added gene: KMT2B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2B were set to PMID: 34477219; 37309110 Phenotypes for gene: KMT2B were set to Dystonia 28, childhood-onset MIM#617284; Intellectual developmental disorder, autosomal dominant 68 MIM#619934 Review for gene: KMT2B was set to RED Added comment: PMID: 34477219 - Single 30yo patient with a canonical splice variant resulting in inframe exon 8 skipping. Presented with adult-onset cerebellar ataxia, minor dystonia, neuropathy and seizure PMID: 37309110 - large review study, no patients specified to have seizures/epilepsy Gene was listed in the Oliver review Sources: Literature |
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