DSE

dermatan sulfate epimerase
OMIM: 605942, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green DSE in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.87

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ehlers-Danlos syndrome, musculocontractural type 2 MIM#615539

Red DSE in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.60

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539)

    Green DSE in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539

    Red DSE in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539