ALDOB

aldolase, fructose-bisphosphate B
OMIM: 612724, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ALDOB in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.4

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 1.17

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 1.83
Latest signed off version: v1.21 (20 Aug 2020)

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 1.6
Latest signed off version: v1.2 (18 Feb 2020)

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 1.457

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 Inborn errors of metabolism


Version 2.131
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.648
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HEREDITARY FRUCTOSE INTOLERANCE

    Green ALDOB in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HEREDITARY FRUCTOSE INTOLERANCE 229600

    Red ALDOB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1068
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 or chorea or related movement disorder


    Version 1.100
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green ALDOB in Severe Paediatric Disorders


    Version 1.76

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Fructose intolerance, hereditary, 229600