Retinal disorders
Gene: RS1EnsemblGeneIds (GRCh38): ENSG00000102104
EnsemblGeneIds (GRCh37): ENSG00000102104
OMIM: 300839, Gene2Phenotype
RS1 is in 3 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- NHS GMS
- Eligibility statement prior genetic testing
- Expert Review Green
- Phenotypes
-
- Developmental macular and foveal dystrophy (males with foveal schisis)
- Eye Disorders
- OMIM
- 300839
- Clinvar variants
- Variants in RS1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis); Eye Disorders
Upload gene information
Ellen McDonagh (Genomics England Curator)RS1 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)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)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)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)
Added New Source
Ellen McDonagh (Genomics England Curator)RS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)RS1 was created by ellenmcdonagh