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| Mendeliome v1.4211 | CSNK1E | Zornitza Stark Publications for gene: CSNK1E were set to 30488659 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4210 | CSNK1E | Zornitza Stark edited their review of gene: CSNK1E: Added comment: PMID 40751262 identifies a heterozygous CGG repeat expansion in the 5′‑UTR of CSNK1E associated with progressive myoclonic epilepsy, ataxia and cognitive decline onset at 10 years, showing incomplete penetrance (present in unaffected sister).; Changed publications: 30488659, 40751262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1232 | CSNK1E | Zornitza Stark Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.343 | CSNK1E | Zornitza Stark Marked gene: CSNK1E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.343 | CSNK1E | Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.343 | CSNK1E |
Zornitza Stark gene: CSNK1E was added gene: CSNK1E was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: CSNK1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSNK1E were set to 30488659 Phenotypes for gene: CSNK1E were set to Epileptic encephalopathy Review for gene: CSNK1E was set to RED Added comment: De novo splicing variant reported but in conjunction with STXBP1 variants; authors postulate it may contribute to susceptibility. Also reports linking variants in this gene to psychiatric disorders. Sources: Literature |
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