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DDG2P

Gene: CDK8

Green List (high evidence)
CDK8 (cyclin dependent kinase 8)
EnsemblGeneIds (GRCh38): ENSG00000132964
EnsemblGeneIds (GRCh37): ENSG00000132964
OMIM: 603184, Gene2Phenotype
CDK8 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CDK8-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMID:30905399). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02783.
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 SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:30905399).
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
MONDO:0032897; SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; CDK8-related syndromic intellectual disability; OMIM:618748.0

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

New gene:disorder association added to DDG2P, September 2019: SYNDROMIC INTELLECTUAL DISABILITY. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: all missense/in frame. DDG2P allelic requirement: monoallelic.
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130
Created: 8 Oct 2019, 3:13 p.m.
Last Modified: 8 Oct 2019, 3:13 p.m.
Panel version: 1.130

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SYNDROMIC INTELLECTUAL DISABILITY
OMIM
603184
Clinvar variants
Variants in CDK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CDK8 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene CDK8 was changed from Other - please provide details in the comments to Other

5 May 2020, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CDK8 were changed from SYNDROMIC INTELLECTUAL DISABILITY 612100 to SYNDROMIC INTELLECTUAL DISABILITY

8 Oct 2019, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: CDK8 was added gene: CDK8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK8 were set to 30905399 Phenotypes for gene: CDK8 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: CDK8 was set to Other - please provide details in the comments