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DDG2P

Gene: CDK19

Green List (high evidence)
CDK19 (cyclin dependent kinase 19)
EnsemblGeneIds (GRCh38): ENSG00000155111
EnsemblGeneIds (GRCh37): ENSG00000155111
OMIM: 614720, Gene2Phenotype
CDK19 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CDK19-related intellectual disability and epileptic encephalopathy are strong, monoallelic_autosomal and undetermined (PMID:32330417). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02961.
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 CDK19-associated Intellectual Disability and Epileptic Encephalopathy is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:32330417).
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
CDK19-associated Intellectual Disability and Epileptic Encephalopathy; CDK19-related intellectual disability and epileptic encephalopathy; OMIM:618916.0; MONDO:0030059

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • CDK19-associated Intellectual Disability and Epileptic Encephalopathy
OMIM
614720
Clinvar variants
Variants in CDK19
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: CDK19 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CDK19 was added gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDK19 were set to 32330417 Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy Mode of pathogenicity for gene: CDK19 was set to Other