Retinal disordersGene: PROM1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cone-rod dystrophy 12 (unknown); Macular dystrophy, retinal, 2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Retinitis pigmentosa 41 (BIALLELIC, autosomal or pseudoautosomal); Stargardt disease 4 (unknown)
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 PROM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
PROM1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
PROM1 was created by ellenmcdonagh