Genomics England
GMS Panels
Panels
Genes and Entities

ALDOB

aldolase, fructose-bisphosphate B
OMIM: 612724
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
acute liver failure, Neonatal and Adult Cholestasis, Fructose intolerance, hereditary
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fructose intolerance, hereditary 229600
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary fructose intolerance, Hereditary fructose intolerance (Disorders of fructose metabolism), acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation