Unexplained kidney failure in young people
Gene: NPHP1

NPHP1 (nephrocystin 1)
EnsemblGeneIds (GRCh38): ENSG00000144061
EnsemblGeneIds (GRCh37): ENSG00000144061
OMIM: 607100, Gene2Phenotype
NPHP1 is in 20 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Additional functional evidence from murine model: A near-total NPHP1 knockout mouse model (deleted exons 2-20) reproduced the renal and extrarenal phenotypes associated with human nephronophthisis, including renal cyst development, tubular basement membrane thickening, retinal degeneration and abnormal spermatogenesis. In addition, re-expression of NPHP1 could partially rescue both renal and retinal phenotypes in Nphp1del2–20/del2–20 mice.
Created: 12 Dec 2022, 5:45 p.m. | Last Modified: 12 Dec 2022, 5:45 p.m.

Panel Version: 1.116

Publications

34415307

Created: 12 Dec 2022, 5:45 p.m.
Last Modified: 12 Dec 2022, 5:45 p.m.
Panel version: 1.116

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported for Nephronophthisis 1, juvenile 256100 and one variant for Joubert syndrome 4 609583 and Senior-Loken syndrome-1 266900
Created: 5 Aug 2016, 8:07 a.m.

Created: 5 Aug 2016, 8:07 a.m.

Panel version: 0.229

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
UKGTN
Expert

Phenotypes

Joubert syndrome 4 609583
Nephronophthisis 1, juvenile 256100
Senior-Loken syndrome-1 266900

OMIM

607100

Clinvar variants

Variants in NPHP1

Penetrance

Complete

Panels with this gene