Retinal disorders
Gene: RS1
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.
Comment on mode of inheritance: X-linked dominant (source: OMIM).Created: 23 Mar 2016, 10:24 a.m.
Source NHS GMS was added to RS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for gene RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis); Eye Disorders
RS1 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RS1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of inheritance for RS1 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
RS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RS1 was created by ellenmcdonagh