| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2043 | CSNK2A1 | Elena Savva Classified gene: CSNK2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2043 | CSNK2A1 | Elena Savva Gene: csnk2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2042 | CSNK2A1 | Elena Savva Classified gene: CSNK2A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2042 | CSNK2A1 | Elena Savva Gene: csnk2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2041 | CSNK2A1 | Elena Savva Marked gene: CSNK2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2041 | CSNK2A1 | Elena Savva Gene: csnk2a1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2038 | CSNK2A1 |
Andrew Fennell gene: CSNK2A1 was added gene: CSNK2A1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK2A1 were set to PMID: 35679446; 36588763 Phenotypes for gene: CSNK2A1 were set to Okur-Chung neurodevelopmental syndrome, MIM# 617062 Review for gene: CSNK2A1 was set to GREEN Added comment: PMID 36588763 - Review of previously reported cases noted 9/31 (29%) individuals with Okur-Chung neurodevelopmental syndrome reported to have seizures. PMID: 35679446 - GeneReviews article includes seizures among the more common features of the disorder, present in 11/36 cases reported to date. No specific type of seizure has been noted. Intractable seizures are reported in some individuals while only one case status has been reported. Sources: Literature |
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