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Intellectual disability

Gene: YBX3

Red List (low evidence)
YBX3 (Y-box binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000060138
EnsemblGeneIds (GRCh37): ENSG00000060138
OMIM: 603437, Gene2Phenotype
YBX3 is in 1 panel

1 review

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

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.
Created: 26 Mar 2025, 4:36 p.m. | Last Modified: 26 Mar 2025, 4:36 p.m.
Panel Version: 8.216
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
Created: 26 Mar 2025, 4:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurological disorder

Publications

Created: 26 Mar 2025, 4:35 p.m.

Panel version: 8.215

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Neurological disorder
OMIM
603437
Clinvar variants
Variants in YBX3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2025, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: YBX3 were set to 39423228

26 Mar 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

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