PanelApp
  1. Genes and Genomic Entities
  2. PRPH

PRPH

peripherin
OMIM: 170710, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PRPH in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.44

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • Expert list
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Amyotrophic lateral sclerosis, susceptibility to}, 105400

    Amber PRPH in Mendeliome


    Version 1.4592

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Amyotrophic lateral sclerosis, susceptibility to} MIM#105400
    • Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related

    Amber PRPH in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    Phenotypes
    • Hereditary motor and sensory neuropathy MONDO:0015358, PRPH-related