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| Genetic Epilepsy v0.2179 | JMJD1C | Elena Savva Classified gene: JMJD1C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2179 | JMJD1C | Elena Savva Gene: jmjd1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2178 | JMJD1C | Elena Savva Classified gene: JMJD1C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2178 | JMJD1C | Elena Savva Gene: jmjd1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2177 | JMJD1C | Elena Savva Marked gene: JMJD1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2177 | JMJD1C | Elena Savva Gene: jmjd1c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2177 | JMJD1C |
Elena Savva gene: JMJD1C was added gene: JMJD1C was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JMJD1C were set to PMID: 32996679; 26181491; 31954878 Phenotypes for gene: JMJD1C were set to Intellectual disability (MONDO#0001071), JMJD1C-related Review for gene: JMJD1C was set to AMBER Added comment: PMID: 32996679 - de novo synonymous variant resulting in a 21bp deletion, who had learning disability and myoclonic epilepsy (onset 10yo). Paper reviews prev reports, notes only 1/19 other patients with seizures (p.P163L) PMID: 26181491 - de novo p.P163L (same as above), in a proband with gait dyspraxia, hand-washing stereotype, learning impairment, teeth grinding, air swallowing, kyphoscoliosis, and tonic epilepsy. Functional studies support missense pathogenicity. PMID: 31954878 - 2/7 patients with de novo variants with ASD, ID and seizures. One proband had a de novo missense (p.V117I), another a PTC (p.P109Lfs*3) of unknown inheritance Sources: Literature |
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