PanelApp (stage)
  1. Genes and Genomic Entities
  2. MCEE

MCEE

methylmalonyl-CoA epimerase
OMIM: 608419, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MCEE in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency MIM#251120
  • Organic acidurias

Green MCEE in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

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

Red MCEE in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency

Green MCEE in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.46

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Methylmalonyl-CoA epimerase deficiency MIM#251120
    • Organic acidurias

    Green MCEE in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615

    Green MCEE in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    Phenotypes
    • Methylmalonyl-CoA epimerase deficiency MIM#251120
    Tags
    • treatable
    • metabolic

    Green MCEE in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.6

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615