Unexplained young onset end-stage renal disease
Gene: NPHP1
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, 5:46 p.m. | Last Modified: 12 Dec 2022, 5:46 p.m.
Panel Version: 2.1
Publications
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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 266900Created: 5 Aug 2016, 8:07 a.m.
Comment on list classification: Major nephronophthisis gene.Created: 10 May 2016, 10:53 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1
Publications
Publications for gene: NPHP1 were set to 266900; 34415307
Publications for gene: NPHP1 were set to 266900
gene: NPHP1 was added gene: NPHP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP1 were set to 266900 Phenotypes for gene: NPHP1 were set to Joubert syndrome 4 609583; Ciliopathy genes associated with cystic kidney disease; Senior-Loken syndrome-1 266900; Nephronophthisis 1, juvenile 256100