1. Genes and Genomic Entities
  2. TRMT1

TRMT1

tRNA methyltransferase 1
OMIM: 611669, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red TRMT1 in Severe microcephaly


Level 2: Neurology
Version 9.26
Latest signed off version: v9.13 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Literature
Phenotypes
  • Non‐syndromal congenital microcephaly
Red TRMT1 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green TRMT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • autosomal recessive intellectual disorder
    • ARID
    • Mental retardation, autosomal recessive 68, 618302
    • Global developmental delay
    • Intellectual disability