1. Genes and Genomic Entities
  2. MT-TS1

MT-TS1

mitochondrially encoded tRNA serine 1 (UCN)
OMIM: 590080, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red MT-TS1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.35

review MITOCHONDRIAL
Sources
  • Other
Phenotypes
  • palmoplantar keratoderma with deafness
  • Keratoderma, Palmoplantar, with deafness
Tags
  • locus-type-rna-transfer
Red MT-TS1 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.9
Latest signed off version: v4.0 (30 Apr 2025)

review MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Keratoderma, Palmoplantar, with deafness
  • palmoplantar keratoderma with deafness
Tags
  • locus-type-rna-transfer
Green MT-TS1 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-TS1 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
    Green MT-TS1 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 Green
    • Emory Genetics Laboratory
    Phenotypes
    • MERRF/MELAS OVERLAP SYNDROME
    • MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
    • KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
    • DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
    • DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES, INCLUDED
    • EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA
    Tags
    • locus-type-rna-transfer
    • gene-checked
    Green MT-TS1 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
    No list MT-TS1 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