PanelApp
  1. Genes and Genomic Entities
  2. ACADM

ACADM

acyl-CoA dehydrogenase medium chain
OMIM: 607008, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green ACADM in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450

Green ACADM in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 1.14

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
    Tags
    • treatable

    Green ACADM in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
    Tags
    • treatable

    Green ACADM in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450
    Tags
    • treatable

    Green ACADM in Additional findings_Adult


    Level 2: Screening
    Version 1.130

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450

    Green ACADM 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
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
    Tags
    • treatable

    Green ACADM in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
    • Rhabdomyolysis
    Tags
    • treatable

    Green ACADM in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450

    Green ACADM in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Medium chain acyl CoA dehydrogenase deficiency

    Green ACADM in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.30

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
    Tags
    • treatable

    Green ACADM in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
    Tags
    • treatable

    Red ACADM in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450

    Green ACADM in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450

    Green ACADM in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Medium chain acyl CoA dehydrogenase deficiency, MIM#201450
    Tags
    • treatable
    • metabolic

    Green ACADM in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450

    Green ACADM in Genomic newborn screening: ICoNS


    Level 2: Screening
    Version 0.16

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Acyl-CoA dehydrogenase, medium chain, deficiency of MIM# 201450