EVC2 EvC ciliary complex subunit 2

Gene info



Previous symbol


External ID

HGNC: 19747
Entrez Gene: 132884
Ensembl: ENSG00000173040
UCSC: uc003gij.4
OMIM: 607261
UniProtKB: Q86UK5

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Atrioventricular septal defect
  • Pulmonic stenosis
  • Transposition of the great arteries

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 EVC2: 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., Sato, Y., Ogawa, S., & Mizuguchi, M. (2016). Truncation and microdeletion ofEVC/EVC2with missense mutation ofEFCAB7in Ellis-van Creveld syndrome. Congenital Anomalies, 56(5), 209–216. Portico. https://doi.org/10.1111/cga.12155 DOI:10.1111/cga.12155 PMID:26748586
  2. Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., & Goodship, J. (2000). Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics, 24(3), 283–286. https://doi.org/10.1038/73508 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. https://doi.org/10.1093/hmg/ddp098 DOI:10.1093/hmg/ddp098 PMID:19251731
  4. D’Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapiccola, B., & 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. https://doi.org/10.1016/j.ejmg.2012.11.005 DOI:10.1016/j.ejmg.2012.11.005 PMID:23220543