CHD7 chromodomain helicase DNA binding protein 7

Gene info

Disease info

Animal model

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 , Likely Pathogenic or Pathogenic/Likely Pathogenic
3. ClinVar review status for the variant is criteria provided

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. https://doi.org/10.1515/bjmg-2015-0007 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. https://doi.org/10.1086/500273 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. https://doi.org/10.1016/j.ejmg.2010.07.002 DOI:10.1016/j.ejmg.2010.07.002