1. Genes and Genomic Entities
  2. FBP2

FBP2

fructose-bisphosphatase 2
OMIM: 603027, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red FBP2 in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.10

review Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
Red FBP2 in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.14
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Not set
    Sources
    • UKGTN
    Red FBP2 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 Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • isolated lactic acidosis
    Red FBP2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Unknown
    Sources
    • Expert Review
    Phenotypes
    • isolated lactic acidosis