PanelApp (staging)
  1. Genes and Genomic Entities
  2. PRPH2

PRPH2

peripherin 2
OMIM: 179605, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green PRPH2 in Mendeliome


Version 1.2302

1 review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 18, MIM#608133
  • Macular dystrophy, vitelliform, 3, MIM#608161
  • Retinitis pigmentosa 7 and digenic form, MIM#608133
  • Choroidal dystrophy, central areolar 2, MIM#613105
  • Macular dystrophy, patterned, 1, MIM#169150
  • Retinitis punctata albescens, MIM#136880

Green PRPH2 in Retinitis pigmentosa_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 7

    Green PRPH2 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Leber congenital amaurosis 18, MIM#608133
    • Macular dystrophy, vitelliform, 3, MIM#608161
    • Retinitis pigmentosa 7 and digenic form, MIM#608133
    • Choroidal dystrophy, central areolar 2, MIM#613105
    • Macular dystrophy, patterned, 1, MIM#169150
    • Retinitis punctata albescens, MIM#136880

    Green PRPH2 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.54

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Choroidal dystrophy, central areolar 2 MIM#613105

    Green PRPH2 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.22

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 18 MIM#608133