Genomics England
GMS Panels
Panels
Genes and Entities

PMP22

peripheral myelin protein 22
OMIM: 601097
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, type 1E, 118300 Roussy Levy syndrome, 180800, Neuropathy, recurrent, with pressure palsies, 162500, Charcot Marie Tooth disease, type 1A, 118220, Neuropathy, inflammatory demyelinating, 139393