ALDOB

aldolase, fructose-bisphosphate B
OMIM: 612724, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ALDOB in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation hereditary fructose intolerance
Green ALDOB in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services UKGTN Emory Genetics Laboratory Phenotypes Neonatal and Adult Cholestasis Fructose intolerance, hereditary acute liver failure
Green ALDOB in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS Victorian Clinical Genetics Services UKGTN Emory Genetics Laboratory Phenotypes acute liver failure Neonatal and Adult Cholestasis Fructose intolerance, hereditary
Green ALDOB in Glycogen storage disease Version 2.4 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Phenotypes Fructose intolerance, hereditary 229600
Green ALDOB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hereditary fructose intolerance (Disorders of fructose metabolism) acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation hereditary fructose intolerance
Green ALDOB in Likely inborn error of metabolism - targeted testing not possible Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes hereditary fructose intolerance Hereditary fructose intolerance (Disorders of fructose metabolism) acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
Red ALDOB in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes HEREDITARY FRUCTOSE INTOLERANCE
No list ALDOB in DDG2P Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed DD-Gene2Phenotype Phenotypes HEREDITARY FRUCTOSE INTOLERANCE 229600 Tags curated_removed
Red ALDOB in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Fructose intolerance, 229600
Red ALDOB in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH
Green ALDOB in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Fructose intolerance, hereditary, 229600