DSE

dermatan sulfate epimerase
OMIM: 605942, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green DSE in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Tags
  • missense
Green DSE in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Red DSE in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539