| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1246 | ZMYND11 | Zornitza Stark Marked gene: ZMYND11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1246 | ZMYND11 | Zornitza Stark Gene: zmynd11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1246 | ZMYND11 | Zornitza Stark Classified gene: ZMYND11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1246 | ZMYND11 | Zornitza Stark Gene: zmynd11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1245 | ZMYND11 |
Danielle Ariti gene: ZMYND11 was added gene: ZMYND11 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMYND11 were set to 32097528; 34216016 Phenotypes for gene: ZMYND11 were set to Mental retardation, autosomal dominant 30 MIM# 616083 Review for gene: ZMYND11 was set to GREEN Added comment: ZMYND11 variants are associated with a neurodevelopmental disorder, MRD30 that is characterised by developmental delay, particularly affecting speech, mild‐moderate intellectual disability, significant behavioural abnormalities, seizures, and hypotonia. * Most identified variants are likely to result in premature truncation and/or nonsense‐mediated decay. PMID: 34216016- Study of individuals with pathogenic ZMYND11 variants, 20/47 individuals presented with epilepsy (idiopathic focal epilepsy, Rolandic epilepsy, generalised epilepsies, Atypical Benign Partial Epilepsy etc). PMID: 32097528- Study of 16 patients with ZMYND11-related syndromic intellectual disability, 31% presented with epilepsy. Sources: Expert list |
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