1. Genes and Genomic Entities
  2. MT-TK

MT-TK

mitochondrially encoded tRNA lysine
OMIM: 590060, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green MT-TK in Multiple lipomas


Version 1.1

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • multiple symmetric lipomatosis
Tags
  • gene-checked
Red MT-TK in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
Green MT-TK in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

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


Version 4.137
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
    Red MT-TK in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • MERRF syndrome 545000
    • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME
    Green MT-TK in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    Tags
    • gene-checked
    No list MT-TK in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Phenotypes
    • MERRF SYNDROME
    Tags
    • curated_removed
    Green MT-TK in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • DIABETES AND DEAFNESS, MATERNALLY INHERITED
    • PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
    • MERRF SYNDROME
    • MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME