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| Intellectual disability v8.216 | YBX3 | Arina Puzriakova Added comment: Comment on publications: PMID:39423228 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 v8.216 | YBX3 | Arina Puzriakova Publications for gene: YBX3 were set to 39423228 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.215 | YBX3 |
Arina Puzriakova gene: YBX3 was added gene: YBX3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: YBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: YBX3 were set to 39423228 Phenotypes for gene: YBX3 were set to Neurological disorder Review for gene: YBX3 was set to RED Added comment: PMID: 39423228 (2024) - functional studies in C. elegans indicate that the Y-Box (YBX) RBP family are involved in memory and cognitive processes. Based on this finding, authors identified two unrelated individuals in the Baylor Genetics dataset with the same heterozygous VUS (c.379A>T (p.Asn127Tyr)) in the YBX3 gene and neurological symptoms. However, phenotypic overlap was limited and there was also a third family with the same variant and a metabolic phenotype. Modelling this variant in worms did lead to memory deficits, however given the clinical heterogeneity among human carriers, there is not enough evidence to draw any conclusions about this gene. Sources: Literature |
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