PMP2

peripheral myelin protein 2
OMIM: 170715, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green PMP2 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279
Green PMP2 in Hereditary neuropathy or pain disorder


Version 4.11
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, demyelinating, type 1G, 618279