PDE6C

phosphodiesterase 6C
OMIM: 600827, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red PDE6C 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 PDE6C in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia
  • Cone dystrophy 4
  • Eye Disorders
  • Cone-Rod Dystrophy, Recessive
  • Achromatopsia, Cone, and Cone-rod Dystrophy
Red PDE6C in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Cone dystrophy 4, 613093
  • Eye Disorders