MRM2

mitochondrial rRNA methyltransferase 2
OMIM: 606906, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MRM2 in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
    Amber MRM2 in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
    Tags
    • Q4_23_promote_green
    • Q4_23_NHS_review
    Green MRM2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • ?Mitochondrial DNA depletion syndrome 17, OMIM:618567