PanelApp (staging)
  1. Genes and Genomic Entities
  2. MECR

MECR

mitochondrial trans-2-enoyl-CoA reductase
OMIM: 608205, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MECR in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
  • MONDO:0015003
  • Optic atrophy 16, MIM# 620629

Green MECR in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.45

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Optic atrophy 16, MIM# 620629

    Green MECR in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.969

    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
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
    • MONDO:0015003

    Green MECR in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.272

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
    • MONDO:0015003

    Green MECR in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
    • MONDO:0015003

    Red MECR in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282