Genomics England
GMS Panels
Panels
Genes and Entities
GBF1
golgi brefeldin A resistant guanine nucleotide exchange factor 1
OMIM:
603698
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Panel
Mode of inheritance
Details
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in
Hereditary neuropathy or pain disorder
R-numbers:
R78
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2GG, OMIM:606483