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Fetal anomalies

Gene: DSE

Green List (high evidence)
DSE (dermatan sulfate epimerase)
EnsemblGeneIds (GRCh38): ENSG00000111817
EnsemblGeneIds (GRCh37): ENSG00000111817
OMIM: 605942, Gene2Phenotype
DSE is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Green in ehlers danlos panel. 9 varaints in HGMD with EDS 4 LOF, 5 missense. All have bilateral Talipes equinovarus, Adduction-flexion contractures, facial features. PMID: 31655143 patient 2 Antenatal scans showed mild ventriculomegaly, bilateral talipes, abnormal positioning of arms and hands and reduced fetal movements. Green - Alice has a case
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, musculocontractural type 2

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
OMIM
605942
Clinvar variants
Variants in DSE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: DSE. Tag Q3_25_NHS_review was removed from gene: DSE.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DSE were changed from Ehlers-Danlos syndrome, musculocontractural type 2 to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: DSE. Tag Q3_25_NHS_review tag was added to gene: DSE.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: DSE was added gene: DSE was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DSE were set to 31655143; 25703627; 23704329; 32130795 Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2