Genomics England
GMS Panels
Panels
Genes and Entities

FBP1

fructose-bisphosphatase 1
OMIM: 611570
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fructose-1,6-bisphosphatase deficiency 229700
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen Storage Disease, Glycogen Storage Disorders- Liver, Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis)