ACAD9

acyl-CoA dehydrogenase family member 9
OMIM: 611103, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Red ACAD9 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM#611126

Green ACAD9 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
    • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
    Tags
    • treatable

    Green ACAD9 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
    Tags
    • treatable

    Green ACAD9 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    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
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
    Tags
    • treatable

    Green ACAD9 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
    Tags
    • treatable

    Green ACAD9 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
    Tags
    • treatable

    Green ACAD9 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
    • Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)

    Green ACAD9 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
    Tags
    • treatable

    Green ACAD9 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • MetBioNet
    • NHS GMS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 20, 611126
    Tags
    • treatable

    Green ACAD9 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • ACAD9 deficiency

    Green ACAD9 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126

    Green ACAD9 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)

    Green ACAD9 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Mitochondrial complex I deficiency, nuclear type 20, MIM#611126
    Tags
    • treatable
    • metabolic

    Green ACAD9 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)