| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v1.375 | CELSR1 |
Rylee Peters changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls. PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. Sources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls. PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. Sources: Literature |
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| Genetic Epilepsy v1.375 | CELSR1 | Rylee Peters Classified gene: CELSR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.375 | CELSR1 | Rylee Peters Gene: celsr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.374 | CELSR1 |
Rylee Peters gene: CELSR1 was added gene: CELSR1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CELSR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CELSR1 were set to 41530147; 36453712 Phenotypes for gene: CELSR1 were set to Neurodevelopmental disorder (MONDO:0700092), CELSR1-related Review for gene: CELSR1 was set to GREEN Added comment: GREEN rating for biallelic neurodevelopmental disorder association: PMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls. PMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. Sources: Literature |
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