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| Mendeliome v1.3886 | TRMT1L | Zornitza Stark Marked gene: TRMT1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3886 | TRMT1L | Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3886 | TRMT1L |
Zornitza Stark gene: TRMT1L was added gene: TRMT1L was added to Mendeliome. 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 Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related Review for gene: TRMT1L was set to RED Added comment: PMID 39786990 reports 2 individuals from a single family with an autosomal recessive homozygous missense variant c.1535C>T (p.Pro512Leu) presenting with early‑onset neurodegenerative syndrome (distal motor neuropathy, leukodystrophy, intellectual disability, hypotonia, contractures). Functional assays in patient fibroblasts show reduced acp3U tRNA modification that is rescued by wild‑type TRMT1L expression. Sources: Literature |
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