Cystic kidney 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, 5:42 p.m. | Last Modified: 12 Dec 2022, 5:42 p.m.
Panel Version: 3.1
Publications
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
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NPHP1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
NPHP1 was added to Cystic kidney diseasepanel. Sources: Expert