Retinal disordersGene: NR2E3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Enhanced S-cone syndrome; Retinitis pigmentosa 37
Variants in this GENE are reported as part of current diagnostic practice
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, 8:05 a.m.
UKGTN source: Enhanced S-cone syndrome (autosomal recessive); Retinitis pigmentosa 37 (autosomal recessive and autosomal dominant).
Created: 26 Apr 2016, 12:43 p.m.
Source NHS GMS was added to NR2E3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
NR2E3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
NR2E3 was created by ellenmcdonagh