Genomics England
GMS Panels
Panels
Genes and Entities

DSE

dermatan sulfate epimerase
OMIM: 605942
PanelMode of inheritanceDetails
2 panels
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539