1. Genes and Genomic Entities
  2. MRM2

MRM2

mitochondrial rRNA methyltransferase 2
OMIM: 606906, Gene2Phenotype

3 panels

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


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

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 Amber
    • Expert list
    Phenotypes
    • ?Mitochondrial DNA depletion syndrome 17, OMIM:618567
    Tags
    • Q4_23_promote_green
    Amber MRM2 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		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
    Amber MRM2 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

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