PanelApp (stage)
  1. Genes and Genomic Entities
  2. PRPH

PRPH

peripherin
OMIM: 170710, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PRPH in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

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

    		•  review 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 1.1891

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Amyotrophic lateral sclerosis, susceptibility to}, 105400