PDE6B

phosphodiesterase 6B
OMIM: 180072, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red PDE6B in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Sources
  • Literature
Red PDE6B 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 PDE6B in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2
  • Retinitis pigmentosa 40
  • Congenital Stationary Night Blindness, Dominant
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary, autosomal dominant 2, 163500
  • Retinitis pigmentosa
  • Retinitis Pigmentosa, Recessive
Red PDE6B in Structural eye disease


Version 3.79
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa-40
  • 613801
  • 163500
  • Night blindness, congenital stationary, autosomal dominant 2
  • Eye Disorders