Retinal disordersGene: NPHP1
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.
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