Congenital Disorders of Glycosylation

Gene: DSE

Red List (low evidence)

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

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

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
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dse has been classified as Red List (Low Evidence).

22 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)

22 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DSE were set to

22 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dse has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DSE was added gene: DSE was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSE was set to Unknown