Genomics England
GMS Panels
Panels
Genes and Entities

NEFL

neurofilament light
OMIM: 162280
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate G, 617882, Charcot Marie Tooth disease, type 1F, 607734, Charcot Marie Tooth disease, type 2E, 607684