PDE6A

phosphodiesterase 6A
OMIM: 180071, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red PDE6A in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green PDE6A in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.222
Latest signed off version: v2.195 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 43
  • Eye Disorders
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
  • Retinitis pigmentosa 43, 613810

Red PDE6A in Structural eye disease


Version 1.83
Latest signed off version: v1.3 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 43, 613810
  • Eye Disorders