INVS inversin

Gene info

Disease info

Animal model

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

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. https://doi.org/10.1038/ki.2008.662 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. https://doi.org/10.1038/ng1217 DOI:10.1038/ng1217 PMID:12872123