1. Genes and Genomic Entities
  2. MT-TV

MT-TV

mitochondrially encoded tRNA valine
OMIM: 590105, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
No list MT-TV in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 6.4
Latest signed off version: v6.3 (12 Aug 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 Removed
    • Literature
    Phenotypes
    • MELAS syndrome, MONDO:0010789
    • hypertrophic cardiomyopathy, MONDO:000504
    Tags
    • locus-type-rna-transfer
    • curated_removed
    No list MT-TV in Tubulointerstitial kidney disease


    Level 2: Renal
    Version 3.35
    Latest signed off version: v3.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review MITOCHONDRIAL
    Sources
    • Literature
    Green MT-TV 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
    Green MT-TV 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-TV in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    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-TV in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.7
    Latest signed off version: v8.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • MELAS syndrome, MONDO:0010789
    • hypertrophic cardiomyopathy, MONDO:000504
    Tags
    • locus-type-rna-transfer
    Amber MT-TV in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.32
    Latest signed off version: v8.30 (12 Aug 2026)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Charcot-Marie-Tooth disease, MONDO:0015626
    Tags
    • Q3_26_expert_review
    • Q3_26_promote_green
    • locus-type-rna-transfer
    • Q3_26_NHS_review
    No list MT-TV 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