Retinal disorders
Gene: NPHP1Additional 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, 5:50 p.m. | Last Modified: 12 Dec 2022, 5:50 p.m.
Panel Version: 3.1
Publications
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Publications for gene: NPHP1 were set to
Source NHS GMS was added to NPHP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for NPHP1 was changed to BIALLELIC, autosomal or pseudoautosomal
NPHP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
NPHP1 was created by ellenmcdonagh