Retinal disordersGene: EFEMP1
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, 8:04 a.m.
Source NHS GMS was added to EFEMP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene EFEMP1 were set to Macular Dystrophy/Degeneration/Stargardt Disease; Inherited macular dystrophy (Doyne/dominant drusen)
EFEMP1 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing
This gene has been classified as Green List (High Evidence).
EFEMP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
EFEMP1 was created by ellenmcdonagh