PanelApp
  1. Genes and Genomic Entities
  2. PDE6B

PDE6B

phosphodiesterase 6B
OMIM: 180072, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PDE6B in Mendeliome


Version 1.3512

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500
  • Retinitis pigmentosa-40 - MIM#613801

Green PDE6B in Retinitis pigmentosa_Autosomal Recessive/X-linked


Level 2: Ophthalmological disorders
Version 0.182

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • inherited retinal dystrophy MONDO:0019118

    Green PDE6B in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.80

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Night blindness, congenital stationary, autosomal dominant 2, MIM#163500

    Green PDE6B in Congenital Stationary Night Blindness


    Level 2: Ophthalmological disorders
    Version 0.23

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Night blindness, congenital stationary, autosomal dominant 2, 163500
    • Retinitis pigmentosa

    Red PDE6B in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Retinitis pigmentosa-40, MIM #613801

    Red PDE6B in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Night blindness, congenital stationary, autosomal dominant 2, 163500
    • Retinitis pigmentosa

    Red PDE6B in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Retinitis pigmentosa-40, MIM #613801