OGT

O-linked N-acetylglucosamine (GlcNAc) transferase
OMIM: 300255, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green OGT 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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Mental retardation, X-linked 106, MIM# 300997

    Green OGT in Mendeliome


    Version 1.1891

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, X-linked 106, MIM# 300997

    Red OGT in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Intellectual developmental disorder, X-linked 106 MIM#300997

    Green OGT in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mental retardation, X-linked 106, MIM# 300997