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| Genetic Epilepsy v0.2310 | PUM1 | Zornitza Stark Phenotypes for gene: PUM1 were changed from Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719; Spinocerebellar ataxia 47, MIM# 617931 to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2309 | PUM1 | Zornitza Stark Phenotypes for gene: PUM1 were changed from intellectual disability; epilepsy; Spinocerebellar ataxia 47, MIM# 617931 to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719; Spinocerebellar ataxia 47, MIM# 617931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2308 | PUM1 | Zornitza Stark edited their review of gene: PUM1: Changed phenotypes: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.587 | PUM1 | Zornitza Stark Marked gene: PUM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.587 | PUM1 | Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.587 | PUM1 | Zornitza Stark Phenotypes for gene: PUM1 were changed from ataxia; intellectual disability; epilepsy to intellectual disability; epilepsy; Spinocerebellar ataxia 47, MIM# 617931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.586 | PUM1 | Zornitza Stark Classified gene: PUM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.586 | PUM1 | Zornitza Stark Gene: pum1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.585 | PUM1 |
Zornitza Stark gene: PUM1 was added gene: PUM1 was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUM1 were set to 29474920; 25768905; 30903679; 31859446 Phenotypes for gene: PUM1 were set to ataxia; intellectual disability; epilepsy Review for gene: PUM1 was set to GREEN Added comment: More than 10 families reported. Individuals with either PUM1 deletions or de novo missense variants have a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). One family with milder missense variant and adult-onset ataxia with incomplete penetrance (Pumilio1-related cerebellar ataxia, PRCA) Sources: Expert Review |
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