Ehlers Danlos syndromes

Gene: DSE

Green List (high evidence)

DSE (dermatan sulfate epimerase)
EnsemblGeneIds (GRCh38): ENSG00000111817
EnsemblGeneIds (GRCh37): ENSG00000111817
OMIM: 605942, Gene2Phenotype
DSE is in 2 panels

6 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
?Ehlers Danlos syndrome, musculocontractural type 2, 615539;EDSMC2;Musculocontractural EDS (mcEDS-DSE);EDS Musculocontractural type;DSE-deficient EDS
Created: 18 Mar 2021, 1:49 p.m. | Last Modified: 18 Mar 2021, 1:49 p.m.
Panel Version: 2.27

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DSE; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

changed Amber to Green due to Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 10 Jul 2017, 1:31 p.m.
Comment on list classification: from expert review Review status changed from Amber to Green. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant
Created: 10 Jul 2017, 1:30 p.m.
Comment on list classification: Currently not enough evidence to make gene green, only two families Muller et al., 2013 (PMID:23704329) and Syx et al., 2015 (PMID:25703627
Created: 26 Apr 2017, 9:47 a.m.
Comment on publications: Added publication to support number of cases to date with Musculocontractural EDS (mcEDS-DSE). Currently in the literature there are only 2 families (3 patients) found to have biallelic DSE variants that cause DSE-deficient EDS. Muller et al., 2013 (PMID:23704329) and Syx et al., 2015 (PMID:25703627).
Two homozygous DSE missense variants (p.(Arg267Gly) and p.(Ser268-Leu)) have been detected. Muller et al., 2013 (PMID:23704329) suggested locus heterogeneity for MC-EDS following the identification of a homozygous DSE variant, leading to DS-epi1-deficiency, in a 2-year-old boy with a phenotype reminiscent of MC-EDS. Subsequently,
Syx et al., 2015 (PMID:25703627) reported a second family with two affected adult sisters harboring a homozygous missense variant in DSE that results in decreased DS-epi1 activity. The three reported individuals with DS-epi1-deficiency share several clinical features with the D4ST1-deficient patients, including the craniofacial dysmorphic features, congenital clubfeet, long and slender fingers with contractures, muscle weakness, smooth, hyperextensible and translucent skin, and formation of large hematomas. The DS-epi1-deficient siblings reported lacked the severe urogenital, gastrointestinal, respiratory, ocular, and central nervous complications observed in D4ST1-deficient patients. The report by Syx et al., 2015. PMID:25703627 of the siblings indicates that missense variants in DSE can be associated with a milder form of MC-EDS, but the limited number of reported patients with DS-epi1-deficiency makes it currently impossible to clinically delineate DS-epi1-deficiency from D4ST1-deficiency.
Created: 19 Apr 2017, 8:42 a.m.
From Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225):
Recently, a number of rare autosomal recessive entities with distinct molecular and biochemical abnormalities that clinically overlap with kEDS have been described; kEDS due to PLOD1 mutations, kEDS due to FKBP14 mutations, the Brittle cornea syndrome (BCS) (ZNF469 and PRDM5), the spondylodysplastic form of EDS caused by SLC39A13 mutations (previously called spondylocheirodysplastic EDS), and musculocontractural EDS (CHST14 and DSE).
Created: 18 Apr 2017, 1:18 p.m.
Added missense tag
Created: 7 Apr 2017, 10:27 a.m.
This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=DSE.
Created: 6 Apr 2017, 8:50 a.m.
Comment on phenotypes: OMIM currently indicate that the relationship between the phenotype and gene is provisional entry (last updated Oct 2016)
Created: 5 Apr 2017, 8:51 a.m.
Comment on phenotypes: amended synonyms from Orphanet and PMID:28306229
Created: 4 Apr 2017, 3:22 p.m.
In relation to the EDS pathogenetic scheme, EDS belongs to 'Disorders of glycosaminoglycan biosynthesis'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.
Created: 4 Apr 2017, 1:02 p.m.
Added gene from 2017 International Classification of the Ehlers–Danlos Syndromes (PMID:28306229) and The Ehlers–Danlos Syndromes, rare types (PMID:28306225).
To be reviewed further for consideration as a Green gene.
Created: 30 Mar 2017, 10:20 a.m.
This is a rare recessive form of EDS
Created: 30 Mar 2017, 10:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS

Publications

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Known EDS gene. Recommend including as green. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Tags
missense
OMIM
605942
Clinvar variants
Variants in DSE
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DSE were changed from ?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DSE. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

10 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Apr 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DSE were set to 27745832; 28306229; 28306225; 23704329; 25703627

5 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DSE were set to ?Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE); EDS Musculocontractural type; DSE-deficient EDS

4 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DSE were set to Ehlers Danlos syndrome, musculocontractural type 2, 615539; EDSMC2; Musculocontractural EDS (mcEDS-DSE);EDS Musculocontractural type; DSE-deficient EDS

4 Apr 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2, 615539;EDSMC2;Musculocontractural EDS (mcEDS-DSE); Musculocontractural EDS; EDSMC2;EDS musculocontractural type;D4ST1-deficient EDS

30 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

DSE was added to Ehlers-Danlos syndromespanel. Sources: Literature

30 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

DSE was created by LouiseD