PanelApp
  1. Genes and Genomic Entities
  2. HIBCH

HIBCH

3-hydroxyisobutyryl-CoA hydrolase
OMIM: 610690, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green HIBCH in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620

Green HIBCH in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green HIBCH in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green HIBCH in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.594

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620

    Green HIBCH in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
    • Leigh syndrome MONDO:0009723

    Green HIBCH in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.144

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
    • Paroxysmal dyskinesia (exercise induced or without clear trigger
    • isolated or with additional features
    • mitochondrial disorder (Leigh syndrome)
    • neurodevelopmental disability
    • epilepsy.

    Green HIBCH in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620

    Green HIBCH in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)

    Red HIBCH in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Neurodegeneration, progressive infantile

    Green HIBCH in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620

    Green HIBCH in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620

    Green HIBCH in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.137

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603

    Green HIBCH in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620
    Tags
    • treatable
    • metabolic

    Green HIBCH in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620