PRPH

peripherin
OMIM: 170710, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber PRPH in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Amber
    Phenotypes
    • {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710