MT-TL1

mitochondrially encoded tRNA leucine 1 (UUA/G)
OMIM: 590050, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

No list MT-TL1 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review MITOCHONDRIAL
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Monogenic Diabetes

Green MT-TL1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

review MITOCHONDRIAL
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • MELAS syndrome
  • Diabetes-Deafness Syndrome, Maternally Transmitted
  • DIABETES AND DEAFNESS, MATERNALLY INHERITED
  • MIDD

Red MT-TL1 in Neuromuscular disorders


Version 5.60
Signed off v.5.43 on 4 Mar 2020

review MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
  • MELAS 540000

No list MT-TL1 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.12

review MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Literature
  • Other
Phenotypes
  • Sudden infant death syndrome, 272120
  • SIDS
  • SIDS

Green MT-TL1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.38

review MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
Phenotypes
  • MELAS syndrome

Red MT-TL1 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.14
Signed off v.2.11 on 15 Oct 2020

Component of the following Super Panels:

  • Sudden cardiac death
  • review MITOCHONDRIAL
    Sources
    • South West GLH
    • Expert Review

    Green MT-TL1 in Monogenic diabetes


    Version 2.3
    Signed off v.2.2 on 25 Feb 2020

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • MIDD
    • DIABETES AND DEAFNESS, MATERNALLY INHERITED
    • Diabetes-Deafness Syndrome, Maternally Transmitted
    • MELAS syndrome
    • Maternally inherited diabetes

    Red MT-TL1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.15
    Signed off v.3.2 on 13 Feb 2020

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • UKGTN

    Red MT-TL1 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.7
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
    • MELAS 540000

    Green MT-TL1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.431

    review MITOCHONDRIAL
    Sources
    • Expert Review Green

    Green MT-TL1 in Inborn errors of metabolism


    Version 2.33
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green

    Green MT-TL1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.380

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy

    Red MT-TL1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.113
    Signed off v.2.5 on 13 Feb 2020

    review Not set
    Sources
    • UKGTN

    Red MT-TL1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.224
    Signed off v.2.2 on 13 Feb 2020

    review MITOCHONDRIAL
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • UKGTN
    • Expert Review Red

    Green MT-TL1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.12
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN

    Red MT-TL1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.21
    Signed off v.2.7 on 25 Feb 2020

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa

    Amber MT-TL1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.17
    Signed off v.1.2 on 27 Feb 2020

    review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy

    No list MT-TL1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH

    Green MT-TL1 in Severe Paediatric Disorders


    Version 1.19

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • MELAS SYNDROME