ST3GAL3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3
OMIM: 606494, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ST3GAL3 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.60

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
    • Intellectual disability, autosomal recessive 12 MIM# 611090

    Green ST3GAL3 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal recessive 12 MIM# 611090

    Amber ST3GAL3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 15 , MIM#615006

    Green ST3GAL3 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual disability, autosomal recessive 12 MIM# 611090

    Red ST3GAL3 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation, autosomal recessive 12 MIM# 611090
    • Developmental and epileptic encephalopathy 15, MIM# 615006