RS1

retinoschisin 1
OMIM: 300839, Gene2Phenotype

3 panels

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

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

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


Level 2: Ophthalmology
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

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


Level 2: Ophthalmology
Version 5.6
Latest signed off version: v5.0 (6 May 2026)

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