Retinal disordersGene: EMC1
only one report
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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, 8:06 a.m.
Single published family - Autozygome-guided exome sequencing in Saudi patients. Insufficient evidence to be included in the panel.
Created: 1 Jun 2016, 10:06 a.m.
Mode of inheritance
Source NHS GMS was added to EMC1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
EMC1 was created by ellenmcdonagh
EMC1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green