PMP2

peripheral myelin protein 2
OMIM: 170715, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green PMP2 in Mendeliome


Version 1.4566

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

Green PMP2 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.186

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Royal Melbourne Hospital
    Phenotypes
    • HMSN
    • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279