PanelApp
  1. Genes and Genomic Entities
  2. GALM

GALM

galactose mutarotase
OMIM: 137030, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green GALM in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • galactosaemia
  • type IV galactosaemia

Green GALM in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • type IV galactosaemia

    Green GALM in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • galactosaemia
    • type IV galactosaemia MONDO:0030105

    Green GALM in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Galactosemia IV MIM#618881
    • Disorders of galactose metabolism

    Green GALM in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Galactosemia IV MIM#618881
    Tags
    • treatable
    • metabolic