PRPF6:Ensemblv90

pre-mRNA processing factor 6
OMIM: 613979, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber PRPF6 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 60, MIM# 613983

Amber PRPF6 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    • Expert Review Amber
    Phenotypes
    • Retinitis pigmentosa 60, MIM# 613983

    Amber PRPF6 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.82

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 60, MIM# 613983

    Amber PRPF6 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 60, MIM# 613983

    Amber PRPF6 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    Phenotypes
    • Retinitis pigmentosa 60, MIM# 613983