1. Panels
  2. DDG2P
  3. CSNK1G1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: CSNK1G1

Red List (low evidence)
CSNK1G1 (casein kinase 1 gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000169118
EnsemblGeneIds (GRCh37): ENSG00000169118
OMIM: 606274, Gene2Phenotype
CSNK1G1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CSNK1G1-related early infantile epileptic encephalopathy and microcephaly are limited, monoallelic_autosomal and undetermined (PMID:24463883). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00754.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24463883).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CSNK1G1-related early infantile epileptic encephalopathy and microcephaly; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY
OMIM
606274
Clinvar variants
Variants in CSNK1G1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CSNK1G1 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene CSNK1G1 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: CSNK1G1 was added gene: CSNK1G1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CSNK1G1 were set to 24463883 Phenotypes for gene: CSNK1G1 were set to EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY Mode of pathogenicity for gene: CSNK1G1 was set to Other - please provide details in the comments