Genomics England
GMS Panels
Panels
Genes and Entities

DSE

dermatan sulfate epimerase
OMIM: 605942
PanelMode of inheritanceDetails
1 panel
Green
in Ehlers Danlos syndromes
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Ehlers Danlos syndrome, musculocontractural type 2, 615539, EDSMC2, Musculocontractural EDS (mcEDS-DSE), EDS Musculocontractural type, DSE-deficient EDS