1. Genes and Genomic Entities
  2. TRMT10C

TRMT10C

tRNA methyltransferase 10C, mitochondrial RNase P subunit
OMIM: 615423, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green TRMT10C in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
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
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Combined oxidative phosphorylation deficiency 30, 616974
    Green TRMT10C in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 30, 616974
    Amber TRMT10C in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
    Green TRMT10C in DDG2P


    Version 6.424
    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
    • Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
    Green TRMT10C in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    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
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert list
    Phenotypes
    • Combined oxidative phosphorylation deficiency 30, 616974