TRAF7 TNF receptor associated factor 7

Gene info

Synonyms

RNF119, DKFZp586I021, MGC7807

Previous symbol

RFWD1

External ID

HGNC: 20456
Entrez Gene: 84231
Ensembl: ENSG00000131653
UCSC: uc002cow.4
OMIM: 606692
UniProtKB: Q6Q0C0

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Bicuspid aortic valve
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

Dysmorphic facies, Neurodevelopmental delay, Autism, Seizures, Hearing loss, Optic atrophy, Failure to thrive, Gastrointestinal abnormalities, Genitourinary anomalies, Vertebral anomalies, Digit and limb abnormalities

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

MGI: no mouse models

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 TRAF7: BED file

Genome browser powered by igv.js

Selected References

  1. Tokita, M. J., Chen, C.-A., Chitayat, D., Macnamara, E., Rosenfeld, J. A., Hanchard, N., … Wang, X. (2018). De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. The American Journal of Human Genetics, 103(1), 154–162. DOI:10.1016/j.ajhg.2018.06.005 PMID:29961569
  2. Castilla-Vallmanya, L., Selmer, K. K., Dimartino, C., Rabionet, R., Blanco-Sánchez, B., … Oufadem, M. (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine, 22(7), 1215–1226. DOI:10.1038/s41436-020-0792-7 PMID:32376980