Genomics England
GMS Panels
Panels
Genes and Entities

DSE

dermatan sulfate epimerase
OMIM: 605942
PanelMode of inheritanceDetails
1 panel
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539