Genomics England
GMS Panels
Panels
Genes and Entities

NEFH

neurofilament heavy
OMIM: 162230
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2CC, 616924