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| Genetic Epilepsy v0.1353 | KMT2D | Zornitza Stark Marked gene: KMT2D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1353 | KMT2D | Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1353 | KMT2D | Zornitza Stark Publications for gene: KMT2D were set to 33552639; 28404210; 27922244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1352 | KMT2D | Zornitza Stark Classified gene: KMT2D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1352 | KMT2D | Zornitza Stark Gene: kmt2d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1351 | KMT2D | Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21882399; Phenotypes: Kabuki syndrome 1 MIM#147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1326 | KMT2D |
Ain Roesley gene: KMT2D was added gene: KMT2D was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2D were set to 33552639; 28404210; 27922244 Phenotypes for gene: KMT2D were set to Kabuki syndrome 1 MIM#147920 Penetrance for gene: KMT2D were set to Complete Review for gene: KMT2D was set to GREEN Added comment: PMID:33552639 1x proband with focal epilepsy. Note: only KDM6A and KMT2D were analysed as Kabuki syndrome was suspected. Parental DNA unavailable for segregation PMID:28404210 5 out of 14 reported to have epilepsy PMID:27922244 1x individual Sources: Literature |
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