Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: FBP1

Green List (high evidence)

FBP1 (fructose-bisphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000165140
EnsemblGeneIds (GRCh37): ENSG00000165140
OMIM: 611570, Gene2Phenotype
FBP1 is in 9 panels

0 reviews


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
  • Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)
Clinvar variants
Variants in FBP1
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FBP1. Source London North GLH was added to FBP1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FBP1 was added gene: FBP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBP1 were set to 27604308 Phenotypes for gene: FBP1 were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)