HADH

hydroxyacyl-CoA dehydrogenase
OMIM: 601609, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green HADH in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Congenital hyperinsulinemic hypoglycemia (HH)
  • Hyperinsulinism, Dominant/Recessive
  • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
  • Protein sensitive hyperinsulinism
Red HADH in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.7
Latest signed off version: v6.0 (1 May 2024)

review Not set
Sources
  • Expert Review Red
  • Expert list
Green HADH 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
  • 3-hydroxyacyl-CoA dehydrogenase deficiency 231530
  • Hyperinsulinemic hypoglycemia, familial, 4 609975
Green HADH in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
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
    • Expert Review Green
    • NHS GMS
    • London North GLH
    • NHS GMS
    Phenotypes
    • 3-hydroxyacyl-CoA dehydrogenase deficiency 231530
    • Hyperinsulinemic hypoglycemia, familial, 4 609975
    Red HADH in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Hyperinsulinemic hypoglycemia, familial, 4, 609975
    • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
    Red HADH 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
    • 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY
    Green HADH in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530
    Red HADH in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    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
    Phenotypes
    • Hyperinsulinemic hypoglycemia, familial, 4, 609975
    • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
    Red HADH in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
    • Hyperinsulinemic hypoglycemia, familial, 4, 609975
    Red HADH in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green HADH in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530
    • Hyperinsulinemic hypoglycemia, familial, 4, 609975