Rhabdomyolysis and metabolic muscle disorders
Gene: FBP2
FBP2 (fructose-bisphosphatase 2)
EnsemblGeneIds (GRCh38): ENSG00000130957
EnsemblGeneIds (GRCh37): ENSG00000130957
OMIM: 603027, Gene2Phenotype
FBP2 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000130957
EnsemblGeneIds (GRCh37): ENSG00000130957
OMIM: 603027, Gene2Phenotype
FBP2 is in 4 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Potentially significant with regard to role in reversal of the glycolysis reaction catalyzed by 6-phosphofructo-1-kinase. No disease associated variants reported to dateCreated: 27 Jun 2017, 11:46 a.m.
Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)
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
Details
- Sources
-
- UKGTN
- OMIM
- 603027
- Clinvar variants
- Variants in FBP2
- Penetrance
- Complete
- Panels with this gene
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