GALK1

galactokinase 1
OMIM: 604313, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GALK1 in Cataract


Level 2: Ophthalmological disorders
Version 0.375

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
  • treatable

Green GALK1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Galactokinase deficiency with cataracts MIM#230200
  • Disorders of galactose metabolism
Tags
  • treatable

Green GALK1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Galactokinase deficiency with cataracts

Green GALK1 in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.57

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Galactokinase deficiency with cataracts MIM#230200
    • Disorders of galactose metabolism
    Tags
    • treatable

    Green GALK1 in Fetal anomalies


    Version 1.465

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Galactokinase deficiency with cataracts MIM#230200

    Red GALK1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Galactokinase deficiency with cataracts (MIM#230200)

    Green GALK1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Galactokinase deficiency with cataracts, MIM#230200
    Tags
    • treatable
    • metabolic