1. Genes and Genomic Entities
  2. MT-TL1

MT-TL1

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

22 panels

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

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.12

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 1.95

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 1.68

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
  • locus-type-rna-transfer
  • gene-checked
No list MT-TL1 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

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 1.68

review MITOCHONDRIAL
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
Phenotypes
  • MELAS syndrome
Tags
  • locus-type-rna-transfer
  • gene-checked
No list MT-TL1 in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

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
    • South West GLH
    • Expert Review
    Phenotypes
    • MELAS syndrome caused by mutation in MTTL1, MONDO:0800032
    • hypertrophic cardiomyopathy, MONDO:0005045
    Tags
    • locus-type-rna-transfer
    • curated_removed
    Green MT-TL1 in Monogenic diabetes


    Level 2: Endocrinology
    Version 3.8
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • maternally-inherited diabetes and deafness, MONDO:0010785
    Tags
    • locus-type-rna-transfer
    • gene-checked
    Amber MT-TL1 in Optic neuropathy


    Level 2: Ophthalmology
    Version 5.48
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • MELAS syndrome caused by mutation in MTTL1, MONDO:0800032
    • optic atrophy, MONDO:0003608
    Tags
    • locus-type-rna-transfer
    • technical-limitations
    Red MT-TL1 in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • UKGTN
    Tags
    • locus-type-rna-transfer
    Red MT-TL1 in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Red
    • UKGTN
    Phenotypes
    • MELAS syndrome caused by mutation in MTTL1, MONDO:0800032
    • inborn mitochondrial myopathy, MONDO:0009637
    Tags
    • locus-type-rna-transfer
    Green MT-TL1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.642

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Green MT-TL1 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
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Amber MT-TL1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Mitochondrial tRNA deficiency
    Red MT-TL1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MT-TL1-associated mitochondrial disorder
    Tags
    • locus-type-rna-transfer
    Green MT-TL1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		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
    • locus-type-rna-transfer
    Amber MT-TL1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • UKGTN
    Phenotypes
    • MELAS syndrome caused by mutation in MTTL1, MONDO:0800032
    • maternally-inherited diabetes and deafness, MONDO:0010785
    • Sensorineural hearing impairment, HP:0000407
    Tags
    • locus-type-rna-transfer
    • technical-limitations
    Red MT-TL1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • UKGTN
    • Expert Review Red
    Tags
    • locus-type-rna-transfer
    Green MT-TL1 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
    • Emory Genetics Laboratory
    • UKGTN
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Green MT-TL1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Retinal dystrophy, HP:0000556
    • Macular dystrophy, HP:0007754
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Amber MT-TL1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Expert Review
    • South West GLH
    Phenotypes
    • MELAS syndrome caused by mutation in MTTL1, MONDO:0800032
    • hypertrophic cardiomyopathy, MONDO:0005045
    Tags
    • locus-type-rna-transfer
    • Q2_25_ promote_green
    • Q2_25_expert_review
    Amber MT-TL1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		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
    Tags
    • locus-type-rna-transfer
    No list MT-TL1 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
    Tags
    • curated_removed