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| Genetic Epilepsy v0.2325 | ZMIZ1 | Zornitza Stark Classified gene: ZMIZ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2325 | ZMIZ1 | Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2324 | ZMIZ1 | Zornitza Stark reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2322 | ZMIZ1 | Elena Savva Marked gene: ZMIZ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2322 | ZMIZ1 | Elena Savva Gene: zmiz1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2322 | ZMIZ1 |
Elena Savva gene: ZMIZ1 was added gene: ZMIZ1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ZMIZ1 were set to PMID: 30639322 Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659 Review for gene: ZMIZ1 was set to RED Added comment: Seizures (rare) listed in OMIM PMID: 30639322 - gene-disease establishing paper. Cohort of 19 probands (16 unrelated), where 3 were reported with seizures. Sources: Literature |
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