TBX22
Homo sapiens
Gene Name: T-box transcription factor 22
Aliases: ABERS, CLPA, CPX, TBXX, dJ795G23.1
Chromosome No: X
Chromosome Band: Xq21.1
Genetic Category: Rare single gene variant
Aliases: ABERS, CLPA, CPX, TBXX, dJ795G23.1
Chromosome No: X
Chromosome Band: Xq21.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
De novo variants in the TBX22 gene were identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014), while a maternally-inherited missense variant in this gene was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020).
Molecular Function
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes.
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
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD