Congenital Heart Defect
Gene: CDK13

CDK13 (cyclin dependent kinase 13)
EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 9 panels

1 review

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

- Both dominant negative and haploinsufficiency have been suggested, but neither mechanism has been substantiated with functional studies (PMID: 29393965, PMID: 30904094).

- All reported pathogenic missense variants are located in the protein kinase domain (PMID: 29021403, PMID: 29393965).

- Two individuals with nonsense variants located at the C-terminal end of the kinase domain were clinically indistinguishable from those with missense variants, suggesting both haploinsufficiency and dominant-negative effect (PMID: 29393965).
Created: 27 Feb 2020, 11:01 p.m. | Last Modified: 27 Feb 2020, 11:01 p.m.

Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

Publications

Created: 27 Feb 2020, 11:01 p.m.
Last Modified: 27 Feb 2020, 11:01 p.m.
Panel version: 0.22

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360

OMIM

603309

Clinvar variants

Variants in CDK13

Penetrance

None

Publications

Panels with this gene