MT-TE

mitochondrially encoded tRNA glutamic acid
OMIM: 590025, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
No list MT-TE 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
Tags
  • locus-type-rna-transfer
Red MT-TE 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
    • Literature
    Phenotypes
    • inborn mitochondrial myopathy, MONDO:0009637
    • congenital myopathy, MONDO:0019952
    Tags
    • locus-type-rna-transfer
    Green MT-TE in Undiagnosed metabolic disorders

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

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
    • DIABETES AND DEAFNESS, MATERNALLY INHERITED
    • MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
    Tags
    • locus-type-rna-transfer
    • gene-checked
    Green MT-TE 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
    Phenotypes
    • MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
    • DIABETES AND DEAFNESS, MATERNALLY INHERITED
    • MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
    Tags
    • locus-type-rna-transfer
    • gene-checked
    Amber MT-TE in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Mitochondrial tRNA deficiency
    Green MT-TE 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
    • UKGTN
    Phenotypes
    • MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
    • DIABETES AND DEAFNESS, MATERNALLY INHERITED
    • MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
    Tags
    • gene-checked
    • locus-type-rna-transfer
    No list MT-TE 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