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  2. Ketotic hypoglycaemia
  3. FBP1
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Ketotic hypoglycaemia

Gene: FBP1

Green List (high evidence)
FBP1 (fructose-bisphosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000165140
EnsemblGeneIds (GRCh37): ENSG00000165140
OMIM: 611570, Gene2Phenotype
FBP1 is in 8 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
Unknown

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from G2P and OMIM.
Created: 6 Apr 2016, 9:54 a.m.
Comment on list classification: Promoted from amber to green due to expert review. It is a confirmed DD gene for fructose 1,6 bisphosphate deficiency.
Created: 6 Apr 2016, 9:54 a.m.
Created: 6 Apr 2016, 9:54 a.m.

Panel version: 0.63

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
OMIM
611570
Clinvar variants
Variants in FBP1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Apr 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FBP1 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FBP1 was added to Ketotic hypoglycaemiapanel. Sources: Emory Genetics Laboratory,UKGTN