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STRs in panel
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Inborn errors of metabolism

Gene: FBP2

Red List (low evidence)

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

1 review

Ellen McDonagh (Genomics England Curator)

Added by Shamima Rahman (UCL Institute of Child Health).
Created: 2 Mar 2016, 2:40 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • isolated lactic acidosis
OMIM
603027
Clinvar variants
Variants in FBP2
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FBP2 was added gene: FBP2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: FBP2 was set to Unknown Phenotypes for gene: FBP2 were set to isolated lactic acidosis