INVS inversin
Gene info
Synonyms
None
Previous symbol
NPHP2
External ID
HGNC: 17870
Entrez Gene: 27130
Ensembl: ENSG00000119509
UCSC: uc004bap.3
OMIM:
243305
UniProtKB:
Q9Y283
Disease info
Disease
CHD Phenotype
- Ventricular septal defect
- Patent foramen ovale
- Pulmonic stenosis
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for INVS: BED file
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Selected References
- 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
- 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