Aortopathy_Connective Tissue Disorders

Gene: DSE

Green List (high evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).
8 cases from 6 unrelated families have been reported with homozygous variants.
Sources: Expert list
Created: 1 Jul 2020, 6:39 a.m.

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 Green
  • Expert list
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

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dse has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dse has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: DSE was added gene: DSE was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSE were set to 28306229; 23704329; 25703627; 32130795 Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539 Review for gene: DSE was set to GREEN