PDE6H

phosphodiesterase 6H
OMIM: 601190, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PDE6H in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Achromatopsia 6 - MIM#610024

Red PDE6H in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 0.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Retinal Cone Dystrophy 3, 610024

    Green PDE6H in Achromatopsia


    Level 2: Ophthalmological disorders
    Version 1.5

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Achromatopsia 6 MIM#610024

    Green PDE6H in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Achromatopsia 6 MIM#610024