PanelApp
  1. Genes and Genomic Entities
  2. GALE

GALE

UDP-galactose-4-epimerase
OMIM: 606953, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GALE in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombocytopenia 12, syndromic, MIM#620776

Green GALE in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Thrombocytopenia 12, syndromic, MIM#620776

    Green GALE in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Galactose epimerase deficiency MIM#230350
    • Thrombocytopenia 12, syndromic, MIM#620776
    Tags
    • treatable

    Green GALE 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
    • galactose epimerase deficiency MONDO:0009257
    Tags
    • treatable

    Green GALE in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.48

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Galactose epimerase deficiency MIM#230350
    • Disorders of galactose metabolism
    Tags
    • treatable

    Green GALE in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Galactose epimerase deficiency MIM#230350

    Green GALE in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Galactose epimerase deficiency , MIM#230350
    Tags
    • treatable
    • metabolic