1. Genes and Genomic Entities
  2. MT-TS2

MT-TS2

mitochondrially encoded tRNA serine 2 (AGU/C)
OMIM: 590085, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber MT-TS2 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
Tags
  • locus-type-rna-transfer
  • technical-limitations
Green MT-TS2 in Undiagnosed metabolic disorders

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

review MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
  • locus-type-rna-transfer
Green MT-TS2 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
    • locus-type-rna-transfer
    • gene-checked
    Amber MT-TS2 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
    • Literature
    Phenotypes
    • Sensorineural hearing impairment, HP:0000407
    Tags
    • locus-type-rna-transfer
    • technical-limitations
    Green MT-TS2 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
    • locus-type-rna-transfer
    • gene-checked
    Amber MT-TS2 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    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-TS2 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