KHK

ketohexokinase
OMIM: 614058, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber KHK in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Fructosuria MIM#229800
  • Disorders of fructose metabolism

Amber KHK in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Fructosuria MIM#229800
    • Disorders of fructose metabolism