1. Genes and Genomic Entities
  2. MT-TH

MT-TH

mitochondrially encoded tRNA histidine
OMIM: 590040, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green MT-TH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
  • locus-type-rna-transfer
  • gene-checked
Green MT-TH in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • locus-type-rna-transfer
    • gene-checked
    Green MT-TH in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.19
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Tags
    • locus-type-rna-transfer
    • gene-checked
    Amber MT-TH in Retinal disorders


    Level 2: Ophthalmology
    Version 9.15
    Latest signed off version: v9.14 (12 Aug 2026)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Tags
    • locus-type-rna-transfer
    No list MT-TH in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed