PanelApp (test)
  1. Genes and Genomic Entities
  2. AMACR

AMACR

alpha-methylacyl-CoA racemase
OMIM: 604489, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green AMACR in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green AMACR in Mendeliome


    Version 1.1902

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bile acid synthesis defect, congenital, 4, MIM# 214950
    • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307

    Green AMACR in Peroxisomal Disorders


    Level 2: Metabolic disorders
    Version 0.53

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green AMACR in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307

    Green AMACR 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
    • Expert Review
    Phenotypes
    • Bile acid synthesis defect, congenital, 4, MIM# 214950
    • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307

    Green AMACR in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green AMACR in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.147

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Alpha-methylacyl-CoA racemase deficiency, MIM# 614307

    Green AMACR in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    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
    • Alpha-methylacyl-CoA racemase deficiency (MIM#614307)
    • Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids

    Red AMACR 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 Red
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • rhabdomyolysis

    Red AMACR in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Alpha-methylacyl-CoA racemase deficiency
    • Bile acid synthesis defect, congenital, 4

    Green AMACR 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
    • Bile acid synthesis defect, congenital, 4, MIM# 214950

    Red AMACR in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Bile acid synthesis defect, congenital, 4, MIM# 214950

    Green AMACR in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Bile acid synthesis defect, congenital, 4, MIM# 214950
    Tags
    • treatable
    • liver