HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
OMIM: 143450, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green HADHB in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Trifunctional protein deficiency 609015

Green HADHB in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.42
Signed off v.1.34 on 4 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Trifunctional protein deficiency 609015

    Green HADHB in Neuromuscular disorders


    Version 5.51
    Signed off v.5.43 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Trifunctional protein deficiency, 609015

    Red HADHB in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.11
    Signed off v.3.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • Expert list

    Green HADHB in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.418

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
    • Trifunctional protein deficiency 609015

    Green HADHB in Inborn errors of metabolism


    Version 2.15
    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
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
    • Trifunctional protein deficiency 609015

    Red HADHB in Possible mitochondrial disorder - nuclear genes


    Version 1.15
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Trifunctional protein deficiency, 609015

    Green HADHB in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • South West GLH
    • Expert list
    Phenotypes
    • Trifunctional protein deficiency, 609015

    Amber HADHB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.246
    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 list
    Phenotypes
    • Trifunctional protein deficiency, MIM#609015

    Red HADHB in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.8
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Trifunctional protein deficiency, 609015

    Green HADHB in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
    • Trifunctional protein deficiency 609015
    • Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)
    • Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism
    • Mitochondrial Trifunctional Protein deficiency
    • HCM

    Amber HADHB in Hereditary neuropathy NOT PMP22 copy number


    Version 1.6
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • London North GLH
    • South West GLH
    • NHS GMS
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Trifunctional protein deficiency, 609015

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


    Version 1.8
    Signed off v.1.2 on 25 Feb 2020

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

    Green HADHB in Severe Paediatric Disorders


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trifunctional protein deficiency, 609015