1. Genes and Genomic Entities
  2. MECR

MECR

mitochondrial trans-2-enoyl-CoA reductase
OMIM: 608205, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green MECR in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Green MECR in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.40

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Green MECR in Optic neuropathy


Level 2: Ophthalmology
Version 5.54
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
Red MECR in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.21
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
    Green MECR in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.113
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
    Green MECR in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.31
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
    Amber MECR in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.196
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Childhood-Onset Dystonia and Optic Atrophy
    Green MECR in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Childhood-Onset Dystonia and Optic Atrophy
    Red MECR in Intellectual disability


    Level 2: Developmental disorders
    Version 9.400
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Childhood-Onset Dystonia and Optic Atrophy
    Green MECR in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.54
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
    Red MECR in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
    Green MECR in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.25
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282