Ketotic hypoglycaemia

Gene: FBP2

Red List (low evidence)

FBP2 (fructose-bisphosphatase 2)
EnsemblGeneIds (GRCh38): ENSG00000130957
EnsemblGeneIds (GRCh37): ENSG00000130957
OMIM: 603027, Gene2Phenotype
FBP2 is in 4 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Kept red due to expert review.
Created: 8 Jun 2016, 12:22 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
OMIM
603027
Clinvar variants
Variants in FBP2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FBP2 was added to Ketotic hypoglycaemiapanel. Sources: UKGTN