UBR7 ubiquitin protein ligase E3 component n-recognin 7

Gene info

Synonyms

None

Previous symbol

C14orf130

External ID

HGNC: 20344
Entrez Gene: 55148
Ensembl: ENSG00000012963
UCSC: uc001ybm.4
OMIM: 613816
UniProtKB: Q8N806

Disease info

Disease

None

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Patent foramen ovale

Extra Cardiac Phenotype

Intellectual disability, epilepsy, hypothyroidism, dysmorphic features

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

1913872

Variant info

Clinvar

UBR7

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

Genome browser powered by igv.js

Selected References

  1. Li, C., Beauregard-Lacroix, E., Kondratev, C., Rousseau, J., Heo, A. J., Neas, K., Graham, B. H., Rosenfeld, J. A., Bacino, C. A., Wagner, M., Wenzel, M., Al Mutairi, F., Al Deiab, H., Gleeson, J. G., Stanley, V., Zaki, M. S., Kwon, Y. T., Leroux, M. R., & Campeau, P. M. (2021). UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. The American Journal of Human Genetics, 108(1), 134–147. https://doi.org/10.1016/j.ajhg.2020.11.018 DOI:10.1016/j.ajhg.2020.11.018 PMID:33340455