HIBCH

3-hydroxyisobutyryl-CoA hydrolase
OMIM: 610690, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green HIBCH in Pyruvate dehydrogenase (PDH) deficiency


Version 1.36
Latest signed off version: v1.2 (17 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620
  • 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Green HIBCH in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Green HIBCH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methacrylic aciduria (Organic acidurias)
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
  • HIBCH deficiency
Green HIBCH in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

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
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
    • HIBCH deficiency
    • Methacrylic aciduria (Organic acidurias)
    Green HIBCH in Possible mitochondrial disorder - nuclear genes


    Version 3.89
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
    Green HIBCH in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HIBCH DEFICIENCY
    Green HIBCH in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HIBCH DEFICIENCY 250620
    Green HIBCH in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.478
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • HIBCH DEFICIENCY
    Green HIBCH in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620
    • HIBCH deficiency
    Red HIBCH in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
    Green HIBCH in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
    Green HIBCH in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620