NPHP4 nephrocystin 4

Gene info

Synonyms

nephroretinin|POC10 centriolar protein homolog (Chlamydomonas)

Previous symbol

None

External ID

HGNC: 19104
Entrez Gene: 261734
Ensembl: ENSG00000131697
UCSC: uc001alq.3
OMIM: 607215
UniProtKB: O75161

Disease info

Disease

None

CHD Phenotype

  • Atrioventricular septal defect
  • Transposition of the great arteries
  • Double outlet right ventricle
  • Dextrocardia

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: No CHD in knockout mice

MGI ID

2384210

Variant info

Clinvar

NPHP4

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

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Selected References

  1. French, V. M., van de Laar, I. M. B. H., Wessels, M. W., Rohe, C., Roos-Hesselink, J. W., Wang, G., Frohn-Mulder, I. M. E., Severijnen, L.-A., de Graaf, B. M., Schot, R., Breedveld, G., Mientjes, E., van Tienhoven, M., Jadot, E., Jiang, Z., Verkerk, A., Swagemakers, S., Venselaar, H., Rahimi, Z., … Bertoli-Avella, A. M. (2012). NPHP4 Variants Are Associated With Pleiotropic Heart Malformations. Circulation Research, 110(12), 1564–1574. https://doi.org/10.1161/circresaha.112.269795 DOI:10.1161/CIRCRESAHA.112.269795 PMID:22550138