Activity
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4 actions
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| Genetic Epilepsy v0.2186 | KDM6A | Elena Savva Marked gene: KDM6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2186 | KDM6A | Elena Savva Gene: kdm6a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2186 | KDM6A |
Elena Savva gene: KDM6A was added gene: KDM6A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: KDM6A were set to PMID: 28442529 Phenotypes for gene: KDM6A were set to Kabuki syndrome 2 MIM#300867 Review for gene: KDM6A was set to RED Added comment: PMID: 28442529 - describes generalized epilepsy with febrile seizures plus in a family with a co-segregating SCN1A variant. Proband had GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Gene was on the Oliver list Sources: Literature |
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| 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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