RDH5

retinol dehydrogenase 5
OMIM: 601617, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red RDH5 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 RDH5 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.71
Latest signed off version: v4.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Congenital Stationary Night Blindness
  • Fundus albipunctatus, 136880
  • Fundus albipunctatus
Red RDH5 in Structural eye disease


Version 3.74
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Fundus albipunctatus, 136880
  • Eye Disorders