Aliases: ABERS, CLPA, CPX, TBXX, dJ795G23.1
Chromosome No: X
Chromosome Band: Xq21.1
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
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).
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.