Variants in the TAF1 gene are associated with intellectual disability, autism spectrum disorder, occasional congenital cardiac anomalies, and a variety of other conditions. The disease presentation is quite variable, and genotype-phenotype correlations are still ongoing. The research community is still far away from a “saturation mutagenesis” view of the TAF1 gene, and the clinical consequences of individual variants remain difficult to predict. The continued accumulation of clinical and molecular data is critical to understanding the contribution of specific variants to TAF1‐related phenotypes. Future research using in vitro and in vivo functional studies will be needed to elucidate the consequences of these variants.
TAF1