MT-TH

mitochondrially encoded tRNA histidine
OMIM: 590040, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MT-TH in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
  • gene-checked

Green MT-TH in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • gene-checked

    Green MT-TH in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Tags
    • gene-checked

    Amber MT-TH in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber

    No list MT-TH in Childhood onset dystonia or chorea or related movement disorder


    Version 1.246
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green MT-TH in Severe Paediatric Disorders


    Version 1.127

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
    • CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL
    • MERRF/MELAS OVERLAP SYNDROME