PanelApp (test)
  1. Genes and Genomic Entities
  2. CHST8:Ensemblv90

CHST8:Ensemblv90

carbohydrate sulfotransferase 8
OMIM: 610190, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CHST8 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.80

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peeling Skin Syndrome

    Red CHST8 in Mendeliome


    Version 1.3802

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peeling skin syndrome, MONDO:0019347, CHST8-realted

    Red CHST8 in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Peeling Skin Syndrome