Retinal disordersGene: RIMS1
no evidence anymore
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.
We have found nonsense mutations in this gene, which is reported to be associated with dominant retinal disease, in patients with known mutations in other genes, which account for their phenotype. Insufficient evidence to include this in the green list.
Created: 1 Jun 2016, 11:20 a.m.
Mode of inheritance
Cone rod dystrophy 7
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to RIMS1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene RIMS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RIMS1 was created by ellenmcdonagh
RIMS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green