EVC EvC ciliary complex subunit 1

Gene info

Synonyms

DWF-1

Previous symbol

None

External ID

HGNC: 3497
Entrez Gene: 2121
Ensembl: ENSG00000072840
UCSC: uc003gil.2
OMIM: 604831
UniProtKB: P57679

Disease info

CHD Phenotype

  • Atrial septal defect
  • Pulmonary stenosis
  • Transposition of the great arteries
  • Ventricular septal defect
  • Common atrium
  • Atrioventricular canal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

EVC

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 EVC: BED file

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Selected References

  1. Nguyen, T. Q. N., Saitoh, M., Trinh, H. T., Doan, N. M. T., Mizuno, Y., Seki, M., … Mizuguchi, M. (2016). Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. Congenital Anomalies, 56(5), 209–216. DOI:10.1111/cga.12155 PMID:26748586
  2. Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., … Goodship, J. (2000). Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics, 24(3), 283–286. DOI:10.1038/73508 PMID:10700184
  3. Sund, K. L., Roelker, S., Ramachandran, V., Durbin, L., & Benson, D. W. (2009). Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. Human Molecular Genetics, 18(10), 1813–1824. DOI:10.1093/hmg/ddp098 PMID:19251731
  4. D’Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., … De Luca, A. (2013). Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. European Journal of Medical Genetics, 56(2), 80–87. DOI:10.1016/j.ejmg.2012.11.005 PMID:23220543