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 1.42

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 2.285
Latest signed off version: v2.195 (5 Aug 2021)

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 1.132
Latest signed off version: v1.3 (4 Mar 2020)

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