| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1815 | ASH1L | Zornitza Stark Marked gene: ASH1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1815 | ASH1L | Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1815 | ASH1L | Zornitza Stark Classified gene: ASH1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1815 | ASH1L | Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1814 | ASH1L |
Zornitza Stark gene: ASH1L was added gene: ASH1L was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASH1L were set to 34373061; 25961944; 34782621; 32469098 Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796 Review for gene: ASH1L was set to GREEN Added comment: Liu et al 2021 - twin sisters with mild intellectual disability and seizures. WES identified a de novo nonsense variant in exon 3. In this paper they look at previously reported variants and others reported in patients presenting with a seizure phenotype -Table 2: p.Glu2143* - autism spectrum disorder (seizure) - ref 7 p.Arg2391His - Intellectual disability (seizure) - ref 7 p.Arg2421* - intellectual disability/developmental delay (seizure) - ref 7 (Ref 7 - Krumm et al, 2015, Nat Genet, 47:582-88). Krumm et al, 2015 - cohort of patients with myoclonic atonic seizures (MAE) - table 2 shows that 1 patient idenitifed in this cohort (de novo) and that two additional patients were identified in the Iossifov proband (family 13678 - nonsense - can't see anything re epilepsy phenotype) and de rubeis proband (no mention in this paper that they had epilepsy pheno - PMID 25363760) - all de novo (2 nonsense 1 fs) Qin et al 2021 - The elevated PFC pyramidal neuronal excitability, increased E/I ratio, and excessive synchronised cortical network activity of Ash1L-deficient mice is linked to seizures, which recapitulates the phenotype of some autistic children carrying ASH1L variants. Tang et al, 2020 - table 3 candidate variants - ASH1L - de novo variant p.Arg1342* - 7 year old male with seizure onset at 6 months refractory to treatment, also mod- severe ID, ASD and ADHD. 3 definite families where de novo nonsense/fs variants have been reported in individuals with an epilepsy phenotype as well as ASD/ ID in the literature, patients reported in decipher with seizure phenotype and ASHIL variant (2 de novo nonsense, 1 de novo fs reported as pathogenic), and mouse studies support role for ASHIL in epeilepsy phenotype. Sources: Literature |
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