Unexplained kidney failure in young people
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, 5:45 p.m. | Last Modified: 12 Dec 2022, 5:45 p.m.
Panel Version: 1.116
Publications
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.
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
NPHP1 was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for NPHP1 were set to Joubert syndrome 4 609583; Nephronophthisis 1, juvenile 256100; Senior-Loken syndrome-1 266900
NPHP1 was created by sleigh
NPHP1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green