1. Genes and Genomic Entities
  2. TRMT5

TRMT5

tRNA methyltransferase 5
OMIM: 611023, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red TRMT5 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
    Amber TRMT5 in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.11
    Latest signed off version: v6.10 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
    Green TRMT5 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
    Green TRMT5 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
    Green TRMT5 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
    Green TRMT5 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert list
    Phenotypes
    • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
    Green TRMT5 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539