1. Genes and Genomic Entities
  2. MT-TS1

MT-TS1

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

8 panels

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

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

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


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Keratoderma, Palmoplantar, with deafness
  • palmoplantar keratoderma with deafness
Green MT-TS1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MITOCHONDRIAL
Sources
  • Expert Review Green
Green MT-TS1 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
    Green MT-TS1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    • gene-checked
    Green MT-TS1 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
    No list MT-TS1 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-TS1 in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
    • KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
    • MERRF/MELAS OVERLAP SYNDROME