PanelApp
  1. Genes and Genomic Entities
  2. DSE

DSE

dermatan sulfate epimerase
OMIM: 605942, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DSE in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

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

Green DSE in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Neuromuscular Superpanel

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

    Red DSE in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 1.80

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 1.3795

    		1 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 1.497

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