Genomics England
GMS Panels
Panels
Genes and Entities

GBF1

golgi brefeldin A resistant guanine nucleotide exchange factor 1
OMIM: 603698
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483