INVS inversin

Gene info



Previous symbol


External ID

HGNC: 17870
Entrez Gene: 27130
Ensembl: ENSG00000119509
UCSC: uc004bap.3
OMIM: 243305
UniProtKB: Q9Y283

Disease info

CHD Phenotype

  • Ventricular septal defect
  • Patent foramen ovale
  • Pulmonic stenosis

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD


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 INVS: BED file

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Selected References

  1. Tory, K., Rousset-Rouvière, C., Gubler, M.-C., Morinière, V., Pawtowski, A., Becker, C., Guyot, C., Gié, S., Frishberg, Y., Nivet, H., Deschênes, G., Cochat, P., Gagnadoux, M.-F., Saunier, S., Antignac, C., & Salomon, R. (2009). Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. Kidney International, 75(8), 839–847. DOI:10.1038/ki.2008.662 PMID:19177160
  2. Otto, E. A., Schermer, B., Obara, T., O’Toole, J. F., Hiller, K. S., Mueller, A. M., Ruf, R. G., Hoefele, J., Beekmann, F., Landau, D., Foreman, J. W., Goodship, J. A., Strachan, T., Kispert, A., Wolf, M. T., Gagnadoux, M. F., Nivet, H., Antignac, C., Walz, G., … Hildebrandt, F. (2003). Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nature Genetics, 34(4), 413–420. DOI:10.1038/ng1217 PMID:12872123