CHST6

carbohydrate sulfotransferase 6
OMIM: 605294, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CHST6 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 Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Macular corneal dystrophy, MIM# 217800, MONDO:0009020

    Green CHST6 in Corneal Dystrophy


    Level 2: Ophthalmological disorders
    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Macular corneal dystrophy, MIM# 217800, MONDO:0009020

    Green CHST6 in Mendeliome


    Version 1.1902

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Macular corneal dystrophy, MIM# 217800, MONDO:0009020