ALDOA

aldolase, fructose-bisphosphate A
OMIM: 103850, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green ALDOA in Ketotic hypoglycaemia

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Glycogen storage disease XII, 611881
  • Glycogen Storage Disease

Green ALDOA in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.31
Signed off v.1.30 on 12 Dec 2019

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Glycogen storage disease XII 611881

    Green ALDOA in Neuromuscular disorders


    Version 5.15
    Signed off v.5.7 on 12 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease XII

    Green ALDOA in Glycogen storage disease


    Version 1.3
    Signed off v.1.2 on 18 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Glycogen storage disease XII 611881

    Green ALDOA in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.73

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • BRIDGE consortium (NIHRBR-RD)
    Phenotypes
    • Enzyme Disorder
    • Glycogen storage disease
    • Glycogen storage disease XII, 611881
    • Aldolase A deficiency
    • Glycogen storage disease due to aldolase A deficiency

    Green ALDOA in Rare anaemia


    Version 1.1
    Signed off v.1.0 on 23 Sep 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Glycogen storage disease due to aldolase A deficiency
    • 611881 Aldolase A deficiency
    • Enzyme Disorder
    • Aldolase A deficiency
    • Glycogen storage disease XII, 611881
    • 611881 Glycogen storage disease XII
    • Glycogen storage disease

    Green ALDOA in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.413

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Aldolase A deficiency (Glycogen storage disorders)
    • Glycogen storage disease XII, 611881
    • Glycogen Storage Disease

    Green ALDOA in Inborn errors of metabolism


    Version 2.4
    Signed off v.2.3 on 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
    • Glycogen Storage Disease
    • Aldolase A deficiency (Glycogen storage disorders)
    • Glycogen storage disease XII, 611881

    Green ALDOA in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GLYCOGEN STORAGE DISEASE XII

    Green ALDOA in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GLYCOGEN STORAGE DISEASE XII 611881

    Amber ALDOA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 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 Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Red ALDOA in Childhood onset dystonia or chorea or related movement disorder


    Version 1.3
    Signed off v.1.2 on 25 Feb 2020

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