PanelApp (stage)
  1. Genes and Genomic Entities
  2. DSE

DSE

dermatan sulfate epimerase
OMIM: 605942, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DSE in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

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 1.44

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 1.1891

    		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 0.6063

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

    Green DSE in Ehlers Danlos syndromes


    Level 2: Cardiovascular disorders
    Version 1.3

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • International EDS Consortium
    • Expert Review Green
    Phenotypes
    • Musculocontractural EDS
    • ?Ehlers Danlos syndrome, musculocontractural type 2, 615539