Relevance to Autism

Two de novo variants in the TANC2 gene (one loss-of-function variant and one missense variant) were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014; additional de novo missense variants in this gene were subsequently identified in an ASD proband from the Autism Genetic Resource Exchange (AGRE) in Stessman et al., 2017 and an ASD proband from the Autism Sequencing Consortium in Lim et al., 2017. Guo et al., 2019 provided detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2 presenting with a neurodevelopmental disorder characterized by ASD or autistic features (15/20), intellectual disability (19/20), and childhood speech delay (18/20); of the 20 individuals assessed for ASD, seven cases had a formal ASD diagnosis, while eight cases had clinical impression of ASD or Rett-like features. Additional de novo loss-of-function variants in TANC2 have been reported in ASD probands from the SPARK cohort, the Autism Sequencing Consortium, and a Korean ASD cohort (Zhou et al., 2022; Kim et al., 2024).

Molecular Function

This gene encodes a protien of unknown function.

External Links

References