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
Green MT-TP 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-TP 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-TP in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MERRF
    Green MT-TP 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MERRF 545000
    Tags
    • gene-checked
    Red MT-TP in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Red
    Green MT-TP 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
    • UKGTN
    Tags
    • gene-checked
    Amber MT-TP 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
    • NHS GMS
    • RetNet
    • Expert Review Amber
    No list MT-TP 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-TP in Severe Paediatric Disorders


    Version 1.184

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