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 8.31
Latest signed off version: v8.0 (30 Apr 2025)

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


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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 9.279
    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
    Phenotypes
    • autosomal recessive intellectual disorder
    • ARID
    • Mental retardation, autosomal recessive 68, 618302
    • Global developmental delay
    • Intellectual disability