1. Genes and Genomic Entities
  2. KHK

KHK

ketohexokinase
OMIM: 614058, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red KHK in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Essential fructosuria (Disorders of fructose metabolism)
Red KHK in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Essential fructosuria (Disorders of fructose metabolism)