1. Genes and Genomic Entities
  2. MT-TI

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

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  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 1.616

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • gene-checked
    Green MT-TI in Likely inborn error of metabolism - targeted testing not possible


    Version 4.135
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • gene-checked
    Green MT-TI in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Tags
    • gene-checked
    Amber MT-TI in Paediatric or syndromic cardiomyopathy


    Version 3.44
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • NHS GMS
    No list MT-TI in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-TI in Severe Paediatric Disorders


    Version 1.184

    		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