Congenital Disorders of Glycosylation
Gene: DSE

DSE (dermatan sulfate epimerase)
EnsemblGeneIds (GRCh38): ENSG00000111817
EnsemblGeneIds (GRCh37): ENSG00000111817
OMIM: 605942, Gene2Phenotype
DSE is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Link to CDGs unclear.
Created: 22 Jul 2020, 6:08 a.m. | Last Modified: 22 Jul 2020, 6:08 a.m.

Panel Version: 0.100

Created: 22 Jul 2020, 6:08 a.m.
Last Modified: 22 Jul 2020, 6:08 a.m.
Panel version: 0.100

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 23704329;
1x patient born of consanguineous family homozygous for c.803C>T, p.S268L. Patient-derived fibroblasts also showed a significant reduction in epimerase activity. Amount of dermatan sulfate (DS) disaccharides was markedly decreased.
Created: 21 Jul 2020, 11:38 p.m. | Last Modified: 21 Jul 2020, 11:38 p.m.

Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)

Publications

PMID: 23704329

Created: 21 Jul 2020, 11:38 p.m.
Last Modified: 21 Jul 2020, 11:38 p.m.
Panel version: 0.96

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)

OMIM

605942

Clinvar variants

Variants in DSE

Penetrance

None

Publications

23704329

Panels with this gene