Retinal disordersGene: PDE6B
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Night blindness, congenital stationary, autosomal dominant 2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Retinitis pigmentosa-40 (BIALLELIC, autosomal or pseudoautosomal)
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.
Source NHS GMS was added to PDE6B. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene PDE6B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
PDE6B was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
PDE6B was created by ellenmcdonagh