CHD4 chromodomain helicase DNA binding protein 4

Gene info


Mi-2b, Mi2-BETA

Previous symbol


External ID

HGNC: 1919
Entrez Gene: 1108
Ensembl: ENSG00000111642
UCSC: uc001qpo.4
OMIM: 603277
UniProtKB: Q14839

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Coarctation of the aorta
  • Tetralogy of fallot

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: no cardiovascular defect recorded in knockout mice


Variant info


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 CHD4: BED file

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Selected References

  1. Sifrim, A., Hitz, M.-P., Wilsdon, A., Breckpot, J., Turki, S. H. A., Thienpont, B., McRae, J., Fitzgerald, T. W., Singh, T., Swaminathan, G. J., Prigmore, E., Rajan, D., Abdul-Khaliq, H., Banka, S., Bauer, U. M. M., Bentham, J., Berger, F., … Bhattacharya, S. (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
  2. Weiss, K., Lazar, H. P., Kurolap, A., Martinez, A. F., Paperna, T., Cohen, L., Smeland, M. F., Whalen, S., Heide, S., Keren, B., Terhal, P., Irving, M., Takaku, M., Roberts, J. D., Petrovich, R. M., Schrier Vergano, S. A., Kenney, A., Hove, H., DeChene, E., … Lachlan, K. (2020). The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis. Genetics in Medicine, 22(2), 389–397. DOI:10.1038/s41436-019-0612-0 PMID:31388190