RS1

retinoschisin 1
OMIM: 300839, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red RS1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green RS1 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

review 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
Red RS1 in Structural eye disease


Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinoschisis, 312700
  • Eye Disorders
Green RS1 in Severe Paediatric Disorders


Version 1.184

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinoschisis, 312700