MT-TL1

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

21 panels

Panel Reviews Mode of inheritance Details
21 panels
No list MT-TL1 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review MITOCHONDRIAL
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Monogenic Diabetes
Tags
  • curated_removed
No list MT-TL1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review MITOCHONDRIAL
Sources
  • Literature
Phenotypes
  • Nonimmune hydrops fetalis
Green MT-TL1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

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
Tags
  • gene-checked
Red MT-TL1 in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

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 1.15

review MITOCHONDRIAL
Sources
  • Expert Review Removed
  • Literature
  • Other
Phenotypes
  • Sudden infant death syndrome, 272120
  • SIDS
  • SIDS
Tags
  • curated_removed
Green MT-TL1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
Phenotypes
  • MELAS syndrome
Tags
  • gene-checked
Red MT-TL1 in Hypertrophic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.7
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • review MITOCHONDRIAL
    Sources
    • South West GLH
    • Expert Review
    Green MT-TL1 in Monogenic diabetes


    Version 2.57
    Latest signed off version: v2.2 (25 Feb 2020)

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • maternally-inherited diabetes and deafness, MONDO:0010785
    Tags
    • gene-checked
    Red MT-TL1 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • UKGTN
    Red MT-TL1 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.37
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • MELAS syndrome, MONDO:0010789
    Green MT-TL1 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-TL1 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-TL1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MT-TL1-associated mitochondrial disorder
    Green MT-TL1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myopathy, deafness, ophthalmoplegia, diabetes, stroke like episodes, predominantly sensory axonal neuropathy
    Tags
    • gene-checked
    Red MT-TL1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • UKGTN
    Red MT-TL1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 4.168
    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
    Amber MT-TL1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Retinal dystrophy, HP:0000556
    • Macular dystrophy, HP:0007754
    Tags
    • Q1_24_promote_green
    • Q1_24_NHS_review
    Amber MT-TL1 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    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, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-TL1 in Severe Paediatric Disorders


    Version 1.184

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