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 1.24

review MITOCHONDRIAL
Sources
  • Other
Phenotypes
  • palmoplantar keratoderma with deafness
  • Keratoderma, Palmoplantar, with deafness

Red MT-TS1 in Ichthyosis and erythrokeratoderma


Version 1.73
Latest signed off version: v1.3 (15 Oct 2020)

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 1.542

review MITOCHONDRIAL
Sources
  • Expert Review Green

Green MT-TS1 in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Tags
    • gene-checked

    Green MT-TS1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    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 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Tags
    • gene-checked

    No list MT-TS1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed

    Green MT-TS1 in Severe Paediatric Disorders


    Version 1.127

    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