Rhabdomyolysis and metabolic muscle disorders

Gene: FBP2

Red List (low evidence)

FBP2 (fructose-bisphosphatase 2)
EnsemblGeneIds (GRCh38): ENSG00000130957
EnsemblGeneIds (GRCh37): ENSG00000130957
OMIM: 603027, Gene2Phenotype
FBP2 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Potentially significant with regard to role in reversal of the glycolysis reaction catalyzed by 6-phosphofructo-1-kinase. No disease associated variants reported to date
Created: 27 Jun 2017, 11:46 a.m.

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

No reported disease association to date.
Created: 8 Jun 2017, 7:33 a.m.

Mode of inheritance
Unknown

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

4 Jan 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

FBP2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FBP2 was created by sleigh