CHD7 chromodomain helicase DNA binding protein 7

Gene info


KIAA1416, FLJ20357, FLJ20361

Previous symbol


External ID

HGNC: 20626
Entrez Gene: 55636
Ensembl: ENSG00000171316
UCSC: uc003xue.4
OMIM: 608892
UniProtKB: Q9P2D1

Disease info


CHD Phenotype

  • Atrial septal defect
  • Aberrant supraclavicular artery

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mouse with heterozygous stopgain mutation has CHD, heterozygous knockout mouse has CHD


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 CHD7: BED file

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Selected References

  1. Giray Bozkaya, O., Ataman, E., Randa, C., Onur Cura, D., Gürsoy, S., Aksel, O., & Ulgenalp, A. (2015). Three Novel Mutations of CHD7 Gene in Two Turkish Patients with Charge Syndrome; A Double Point Mutation and an Insertion. Balkan Journal of Medical Genetics, 18(1), 65–70. DOI:10.1515/bjmg-2015-0007 PMID:26929907
  2. Lalani, S. R., Safiullah, A. M., Fernbach, S. D., Harutyunyan, K. G., Thaller, C., Peterson, L. E., McPherson, J. D., Gibbs, R. A., White, L. D., Hefner, M., Davenport, S. L. H., Graham, J. M., Bacino, C. A., Glass, N. L., Towbin, J. A., Craigen, W. J., Neish, S. R., Lin, A. E., & Belmont, J. W. (2006). Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation. The American Journal of Human Genetics, 78(2), 303–314. DOI:10.1086/500273 PMID:16400610
  3. Wessels, K., Bohnhorst, B., Luhmer, I., Morlot, S., Bohring, A., Jonasson, J., Epplen, J. T., Gadzicki, D., Glaser, S., Göhring, G., Mälzer, M., Hein, A., Arslan-Kirchner, M., Stuhrmann, M., Schmidtke, J., & Pabst, B. (2010). Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. European Journal of Medical Genetics, 53(5), 280–285. DOI:10.1016/j.ejmg.2010.07.002 PMID:20624498