TRMT1
HGNC:25980 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
0Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in TRMT1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 2 | 2 |
| epilepsy | HP:0001250 | 2 | 2 |
| developmental delay | HP:0001263 | 2 | 2 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to TRMT1| Variant | HGVS / rsID | Articles | Mentions |
|---|
No normalized variants are linked to this gene.
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 43 | 1 |
Supporting publications
2 records- 2025Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.American journal of human geneticsPubMed ↗
- 2020An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.Human mutationPubMed ↗