Genomics England
GMS Panels
Panels
Genes and Entities

MPZ

myelin protein zero
OMIM: 159440
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, congenital hypomyelinating, 605253, Dejerine Sottas disease, 145900, Charcot Marie Tooth disease, dominant intermediate D, 607791, Roussy Levy syndrome, 180800, Charcot Marie Tooth disease, type 2J, 607736, Charcot Marie Tooth disease, type 1B, 118200, Charcot Marie Tooth disease, type 2I, 607677