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Genetic Epilepsy

Gene: CSNK2A1

Green List (high evidence)

CSNK2A1 (casein kinase 2 alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101266
EnsemblGeneIds (GRCh37): ENSG00000101266
OMIM: 115440, Gene2Phenotype
CSNK2A1 is in 6 panels

1 review

Andrew Fennell (Monash Genetics)

Green List (high evidence)

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
Created: 18 Dec 2023, 4:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Okur-Chung neurodevelopmental syndrome, MIM# 617062

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Okur-Chung neurodevelopmental syndrome, MIM# 617062
OMIM
115440
Clinvar variants
Variants in CSNK2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: csnk2a1 has been classified as Green List (High Evidence).

18 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: csnk2a1 has been classified as Green List (High Evidence).

18 Dec 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: csnk2a1 has been removed from the panel.

18 Dec 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Andrew Fennell (Monash Genetics)

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