1. Genes and Genomic Entities
  2. DSE

DSE

dermatan sulfate epimerase
OMIM: 605942, Gene2Phenotype

2 panels

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

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

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