Retinal disorders
Gene: NYX
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.
Rated green by Andrew Webster (Moorfields Eye Hospital) on the Rod Dysfunction Syndrome gene panel: "Causes ON-bipolar dysfunction (complete CSNB). Does not cause a phenotype in heterozygous females. Simlar in phenotype to TRPM1, GRM6, GPR179, LRIT3" Mode of inheritance:
X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: complete congenital stationary night blindness. Publications: 26234941; 23289809; 22735794; 18617546; 16670814; 15761389; 12552565; 11252742; 11062472; 11062471. Review made: Panel Version: 0
Oct. 19, 2015, 1:34 p.m.Created: 26 Apr 2016, 12:35 p.m.
Source NHS GMS was added to NYX. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for NYX was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
NYX was created by ellenmcdonagh
NYX was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green