| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v2.42 | CSNK1E_FRA22A_CGG | Zornitza Stark Marked STR: CSNK1E_FRA22A_CGG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v2.42 | CSNK1E_FRA22A_CGG | Zornitza Stark Str: csnk1e_fra22a_cgg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v2.42 | Zornitza Stark Copied STR CSNK1E_FRA22A_CGG from panel Repeat Disorders | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v2.42 | CSNK1E_FRA22A_CGG |
Zornitza Stark STR: CSNK1E_FRA22A_CGG was added STR: CSNK1E_FRA22A_CGG was added to Genetic Epilepsy. Sources: Expert Review Amber,Literature Mode of inheritance for STR: CSNK1E_FRA22A_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CSNK1E_FRA22A_CGG were set to 40751262; 39107278 Phenotypes for STR: CSNK1E_FRA22A_CGG were set to CSNK1E-related progressive myoclonic epilepsy and developmental and epileptic encephalopathy |
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| Genetic Epilepsy v2.0 | CSNK1E | Gene migrated from ENSG00000213923 to ENSG00000213923 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.362 | CSNK1E | Zornitza Stark Publications for gene: CSNK1E were set to 30488659 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v1.361 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1923 | CSNK1E | Zornitza Stark Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1922 | CSNK1E | Zornitza Stark edited their review of gene: CSNK1E: Changed phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.41 | CSNK1E | Zornitza Stark Marked gene: CSNK1E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.41 | CSNK1E | Zornitza Stark Gene: csnk1e has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.41 | CSNK1E |
Zornitza Stark gene: CSNK1E was added gene: CSNK1E was added to Genetic Epilepsy_AustralianGenomics_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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