PanelApp (test)
  1. Genes and Genomic Entities
  2. PRPH:Ensemblv90

PRPH:Ensemblv90

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 1.39

Component of the following Super Panels:

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

    		•  2 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 1.3802

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

    Amber PRPH in Motor Neurone Disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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