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| Genetic Epilepsy v0.655 | KMT2E | Zornitza Stark Phenotypes for gene: KMT2E were changed from Intellectual disability; Autism; Seizures to O'Donnell-Luria-Rodan syndrome, MIM# 618512; Intellectual disability; Autism; Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.654 | KMT2E | Zornitza Stark edited their review of gene: KMT2E: Added comment: Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. The four individuals with missense variants presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E postulated to explain this divergence in phenotype.; Changed phenotypes: O'Donnell-Luria-Rodan syndrome, MIM# 618512, Intellectual disability, Autism, Seizures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.329 | KMT2E | Zornitza Stark Marked gene: KMT2E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.329 | KMT2E | Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.329 | KMT2E | Zornitza Stark Classified gene: KMT2E as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.329 | KMT2E | Zornitza Stark Gene: kmt2e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.328 | KMT2E |
Zornitza Stark gene: KMT2E was added gene: KMT2E was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2E were set to 31079897 Phenotypes for gene: KMT2E were set to Intellectual disability; Autism; Seizures Review for gene: KMT2E was set to GREEN gene: KMT2E was marked as current diagnostic Added comment: Thirty individuals reported with this neurodevelopmental syndrome, substantial proportion had seizures. Sources: Expert list |
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