Genomics England
GMS Panels
Panels
Genes and Entities

SORD

sorbitol dehydrogenase
OMIM: 182500
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sorbitol dehydrogenase deficiency with peripheral neuropathy OMIM:618912, sorbitol dehydrogenase deficiency with peripheral neuropathy MONDO:0030055