MT-TT

mitochondrially encoded tRNA threonine
OMIM: 590090, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green MT-TT in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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
    • NHS GMS
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Leber optic atrophy, OMIM:535000
    • myoclonic epilepsy associated with ragged-red fibers, OMIM:545000
    • fatal infantile respiratory enzyme deficiency
    • Inherited Diabetes Mellitus
    • adult onset mild myopathy
    Tags
    • gene-checked
    Green MT-TT in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    • UKGTN
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Leber optic atrophy, OMIM:535000
    • myoclonic epilepsy associated with ragged-red fibers, OMIM:545000
    • fatal infantile respiratory enzyme deficiency
    • Inherited Diabetes Mellitus
    • adult onset mild myopathy
    Tags
    • gene-checked
    No list MT-TT in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Phenotypes
    • mitochondrial disease
    • Leber optic atrophy, OMIM:535000
    • myoclonic epilepsy associated with ragged-red fibers, OMIM:545000
    • fatal infantile respiratory enzyme deficiency
    • Inherited Diabetes Mellitus
    • adult onset mild mypathy
    Tags
    • curated_removed