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

CHD Phenotype

  • Patent foramen ovale
  • Pulmonary valve stenosis
  • Ventricular septal defect
  • Mitral insufficiency

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.

  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., … 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., … 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