1. Genes and Genomic Entities
  2. MT-TP

MT-TP

mitochondrially encoded tRNA proline
OMIM: 590075, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Amber MT-TP 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
    • Expert Review Amber
    • Literature
    Phenotypes
    • inborn mitochondrial myopathy, MONDO:0009637
    Tags
    • locus-type-rna-transfer
    Green MT-TP in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Green MT-TP in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.92
    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
    Red MT-TP in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.141
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MERRF
    Tags
    • locus-type-rna-transfer
    Green MT-TP 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MERRF 545000
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Red MT-TP in Intellectual disability


    Level 2: Developmental disorders
    Version 9.288
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Red
    Tags
    • locus-type-rna-transfer
    Green MT-TP 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
    Tags
    • gene-checked
    • locus-type-rna-transfer
    Amber MT-TP in Retinal disorders


    Level 2: Ophthalmology
    Version 8.88
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Tags
    • locus-type-rna-transfer
    No list MT-TP 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