1. Genes and Genomic Entities
  2. MT-TI

MT-TI

mitochondrially encoded tRNA isoleucine
OMIM: 590045, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber MT-TI in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 6.2
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • familial hypertrophic cardiomyopathy, MONDO:0024573
    • familial dilated cardiomyopathy, MONDO:0016333
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Green MT-TI in Undiagnosed metabolic disorders

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

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • familial hypertrophic cardiomyopathy, MONDO:0024573
    • familial dilated cardiomyopathy, MONDO:0016333
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Green MT-TI in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    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
    Phenotypes
    • familial hypertrophic cardiomyopathy, MONDO:0024573
    • familial dilated cardiomyopathy, MONDO:0016333
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Green MT-TI in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • familial hypertrophic cardiomyopathy, MONDO:0024573
    • familial dilated cardiomyopathy, MONDO:0016333
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Green MT-TI in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.2
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • familial hypertrophic cardiomyopathy, MONDO:0024573
    • familial dilated cardiomyopathy, MONDO:0016333
    Tags
    • gene-checked
    • locus-type-rna-transfer
    No list MT-TI in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

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