NPHP3 nephrocystin 3

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. Bergmann, C., Fliegauf, M., Brüchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., Nürnberg, G., Becker, C., Grimm, T., Girschick, G., Lynch, S. A., Kelehan, P., Senderek, J., Neuhaus, T. J., Stallmach, T., … Omran, H. (2008). Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia. The American Journal of Human Genetics, 82(4), 959–970. https://doi.org/10.1016/j.ajhg.2008.02.017 DOI:10.1016/j.ajhg.2008.02.017 PMID:18371931
2. Simpson, M. A., Cross, H. E., Cross, L., Helmuth, M., & Crosby, A. H. (2009). Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3. American Journal of Kidney Diseases, 53(5), 790–795. https://doi.org/10.1053/j.ajkd.2008.12.026 DOI:10.1053/j.ajkd.2008.12.026 PMID:19303681
3. 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