1. Panels
  2. Intellectual disability
  3. TRMT1L
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: TRMT1L

Red List (low evidence)
TRMT1L (tRNA methyltransferase 1 like)
EnsemblGeneIds (GRCh38): ENSG00000121486
EnsemblGeneIds (GRCh37): ENSG00000121486
OMIM: 611673, Gene2Phenotype
TRMT1L is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

Comment on publications: PMID: 39786990 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 27 Mar 2025, 2:38 p.m. | Last Modified: 27 Mar 2025, 2:38 p.m.
Panel Version: 8.232
PMID: 39786990 (2025) - using GeneMatcher authors identified two siblings with a homozygous missense variant (c.1535C>T, p.(Pro512Leu)) in TRMT1L. Patients exhibited a range of early-onset neurodegenerative symptoms including intellectual disability, distal motor neuropathy, leukodystrophy, generalized hypotonia, and contractures. The variant segregates with the disease in the family and is predicted to be deleterious based upon multiple pathogenicity prediction algorithms.

Additional evidence required prior to making any conclusions about the pathogenicity of this gene and therefore rating Red for now.
Sources: Literature
Created: 27 Mar 2025, 2:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early-onset neurodegenerative symptoms

Publications

Created: 27 Mar 2025, 2:28 p.m.

Panel version: 8.230

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Early-onset neurodegenerative symptoms
OMIM
611673
Clinvar variants
Variants in TRMT1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2025, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TRMT1L were set to 39786990

27 Mar 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: TRMT1L was added gene: TRMT1L was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT1L were set to 39786990 Phenotypes for gene: TRMT1L were set to Early-onset neurodegenerative symptoms