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 8.72
Latest signed off version: v8.0 (30 Apr 2025)

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 6.9
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 8.103
    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 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 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    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 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    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 7.45
    Latest signed off version: v7.0 (30 Apr 2025)

    		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