CDK13 cyclin dependent kinase 13

Gene info

Synonyms

CHED, CDC2L, KIAA1791

Previous symbol

CDC2L5

External ID

HGNC: 1733
Entrez Gene: 8621
Ensembl: ENSG00000065883
UCSC: uc003thh.5
OMIM: 603309
UniProtKB: Q14004

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Outflow tract defects

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for CDK13: BED file

Genome browser powered by igv.js

Selected References

  1. Sanchez-Castro, M., Eldjouzi, H., Charpentier, E., Busson, P.-F., Hauet, Q., Lindenbaum, P., … Le Caignec, C. (2016). Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta. Circulation: Cardiovascular Genetics, 9(1), 86–94. DOI:10.1161/CIRCGENETICS.115.001213 PMID:26643481
  2. Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., … Singh, T. (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060–1065. DOI:10.1038/ng.3627 PMID:27479907