MT-TI

mitochondrially encoded tRNA isoleucine
OMIM: 590045, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber MT-TI in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.41
Latest signed off version: v2.11 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH

    Green MT-TI 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-TI 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-TI 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-TI in Cardiomyopathies - including childhood onset


    Version 1.77
    Latest signed off version: v1.4 (19 Feb 2020)

    review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • NHS GMS

    No list MT-TI 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-TI in Severe Paediatric Disorders


    Version 1.127

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC
    • HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL
    • ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING
    • CARDIOMYOPATHY, FATAL
    • CARDIOMYOPATHY, FATAL INFANTILE
    • MULTISYSTEM DISORDER