OR2T10
Homo sapiens
Gene Name: olfactory receptor family 2 subfamily T member 10
Aliases: OR1-64
Chromosome No: 1
Chromosome Band: 1q44
Genetic Category: Rare single gene variant-
Aliases: OR1-64
Chromosome No: 1
Chromosome Band: 1q44
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 9
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was identified as a novel ASD candidate gene in Gonzalez-Mantilla et al., 2016 based on the presence of two potentially pathogenic loss-of-function variants in ASD cases (a de novo nonsense variant in an SSC proband in Iossifov et al., 2014, and a paternally-inherited frameshift variant in a Spanish male ASD proband in Codina-Sola et al., 2015).
Molecular Function
odorant receptor
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
ASD
Recent Recommendation
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.