PRPF8

pre-mRNA processing factor 8
OMIM: 607300, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PRPF8 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 13, MIM#600059
  • Neurodevelopmental disorder MONDO:0700092, PRPF8-related

Green PRPF8 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092, PRPF8-related
    • Retinitis pigmentosa 13 - MIM#600059

    Green PRPF8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder MONDO:0700092, PRPF8-related
    • Retinitis pigmentosa 13 - MIM#600059

    Green PRPF8 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.57

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 13, 600059