RAD21 RAD21 cohesin complex component

Gene info


KIAA0078, hHR21, SCC1

Previous symbol


External ID

HGNC: 9811
Entrez Gene: 5885
Ensembl: ENSG00000164754
UCSC: uc003yod.4
OMIM: 606462
UniProtKB: O60216

Disease info


CHD Phenotype

  • Ventricular septal defect
  • Patent foramen ovale
  • 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 RAD21: BED file

Genome browser powered by igv.js

Selected References

  1. Deardorff, M. A., Wilde, J. J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., Mönnich, M., Yan, Y., Xu, W., Gil-Rodríguez, M. C., Clark, D., Hakonarson, H., Halbach, S., Michelis, L. D., Rampuria, A., Rossier, E., Spranger, S., Van Maldergem, L., Lynch, S. A., … Kaiser, F. J. (2012). RAD21 Mutations Cause a Human Cohesinopathy. The American Journal of Human Genetics, 90(6), 1014–1027. https://doi.org/10.1016/j.ajhg.2012.04.019 DOI:10.1016/j.ajhg.2012.04.019 PMID:22633399
  2. Boyle, M. I., Jespersgaard, C., Nazaryan, L., Bisgaard, A.-M., & Tümer, Z. (2016). A novelRAD21variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. Clinical Genetics, 91(4), 647–649. Portico. https://doi.org/10.1111/cge.12863 DOI:10.1111/cge.12863 PMID:27882533