PanelApp
  1. Genes and Genomic Entities
  2. TRMT5

TRMT5

tRNA methyltransferase 5
OMIM: 611023, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TRMT5 in Mendeliome


Version 2.336

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 26, MIM# 616539

Green TRMT5 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.1

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
    • Combined oxidative phosphorylation deficiency 26, MIM# 616539

    Amber TRMT5 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.51

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • combined oxidative phosphorylation defect type 26, MONDO:0014684