PDE6H

phosphodiesterase 6H
OMIM: 601190, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red PDE6H 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
Amber PDE6H in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • RETINAL CONE DYSTROPHY 3 PDE6H
  • ACHROMATOPSIA
Green PDE6H in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • RETINAL CONE DYSTROPHY 3 PDE6H 610024
    • ACHROMATOPSIA
    Amber PDE6H 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Retinal Cone Dystrophy 3, 610024
    • Achromatopsia 6, 610024
    • Eye Disorders
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    Red PDE6H 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
    • Achromatopsia 6, 610024
    • Eye Disorders