GALE

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber GALE in Bleeding and platelet disorders


Version 1.9
Signed off v.1.2 on 3 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)

Green GALE in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.422

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Literature
Phenotypes
  • Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)
  • Intellectual disability

Green GALE in Inborn errors of metabolism


Version 2.22
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Intellectual disability
    • Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism)

    Green GALE in Fetal anomalies


    Version 1.97
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • EPIMERASE-DEFICIENCY GALACTOSEMIA

    Green GALE in DDG2P


    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EPIMERASE-DEFICIENCY GALACTOSEMIA 230350

    Green GALE in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.360
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Galactose epimerase deficiency, 230350
    • EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG)

    Red GALE in Childhood onset dystonia or chorea or related movement disorder


    Version 1.51
    Signed off v.1.48 on 20 Aug 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green GALE in Severe Paediatric Disorders


    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Galactose epimerase deficiency, 230350