HADHA

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
OMIM: 600890, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red HADHA in Cholestasis


Level 2: Gastroenterological disorders
Version 1.0

Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • LCHAD deficiency, MIM# 609016
    • Mitochondrial trifunctional protein deficiency, MIM# 609015

    Green HADHA in Fatty Acid Oxidation Defects


    Level 2: Metabolic disorders
    Version 1.14

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • LCHAD deficiency, MIM# 609016
    Tags
    • treatable

    Red HADHA in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.324

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • LCHAD deficiency, MIM# 609016

    Green HADHA in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • LCHAD deficiency, MIM# 609016
    • MONDO:0012173
    Tags
    • treatable

    Green HADHA in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • LCHAD deficiency MIM#609016
    • Trifunctional protein deficiency MIM#609015
    Tags
    • treatable

    Green HADHA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173
    Tags
    • treatable

    Green HADHA in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • LCHAD deficiency MIM#609016
    • Mitochondrial trifunctional protein deficiency MIM#609015
    Tags
    • treatable

    Green HADHA in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • LCHAD deficiency MIM#609016
    • Trifunctional protein deficiency MIM#609015
    Tags
    • treatable

    Green HADHA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fatty liver, acute, of pregnancy, 609016 (3)

    Green HADHA in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

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

    Green HADHA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Mitochondrial trifunctional protein deficiency

    Green HADHA in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.24

    Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mitochondrial trifunctional protein deficiency, MIM# 609015
    Tags
    • treatable

    Green HADHA in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trifunctional protein deficiency 609015
    Tags
    • treatable

    Green HADHA in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • LCHAD deficiency, MIM# 609016

    Green HADHA in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fatty liver, acute, of pregnancy, 609016 (3)

    Green HADHA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Mitochondrial trifunctional protein deficiency, MIM#609015
    • LCHAD deficiency, MIM# 609016
    Tags
    • treatable
    • metabolic

    Green HADHA in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Fatty liver, acute, of pregnancy, 609016 (3)