Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.232 | TRMT1L | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.232 | TRMT1L | Arina Puzriakova Publications for gene: TRMT1L were set to 39786990 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.230 | TRMT1L |
Arina Puzriakova 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 Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||