RAD21 RAD21 cohesin complex component

Gene info

Synonyms

KIAA0078, hHR21, SCC1

Previous symbol

None

External ID

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

Disease info

Disease

CHD Phenotype

  • Patent foramen ovale
  • Tetralogy of fallot
  • Ventricular septal defect
  • Pulmonary valve regurgitation
  • Tricuspid valve regurgitation

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Yes

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 RAD21: BED file

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Selected References

  1. Deardorff, M. A., Wilde, J. J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., … Kaiser, F. J. (2012). RAD21 Mutations Cause a Human Cohesinopathy. The American Journal of Human Genetics, 90(6), 1014–1027. 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. DOI:10.1111/cge.12863 PMID:27882533