Retinal disordersGene: PHYH
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.
Source NHS GMS was added to PHYH. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for PHYH were set to Eye Disorders; Refsum disease
Mode of inheritance for PHYH was changed to BIALLELIC, autosomal or pseudoautosomal
PHYH was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
PHYH was created by ellenmcdonagh