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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