PanelApp (test)
  1. Genes and Genomic Entities
  2. PMP2:Ensemblv90

PMP2:Ensemblv90

peripheral myelin protein 2
OMIM: 170715, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PMP2 in Mendeliome


Version 1.3802

3 reviews 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 1.68

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Amber PMP2 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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