PanelApp (stage)
  1. Genes and Genomic Entities
  2. PMP2

PMP2

peripheral myelin protein 2
OMIM: 170715, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber PMP2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1G MIM#618279

Amber PMP2 in Hereditary Neuropathy_CMT - isolated


Level 2: Neurology and neurodevelopmental disorders
Version 1.48

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • HMSN
    • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279