Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants1 / 0
AliasesTEK, CD202B, GLC3E, TIE-2, TIE2, VMCM, VMCM1
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
A de novo missense variant that was predicted to be possibly damaging (defined as 1 MPC < 2) was identified in the TEK gene in an ASD proband from the Autism Sequencing Consortium, while three protein-truncating variants in this gene were subsequently observed in case samples from the Danish iPSYCH study (Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified TEK as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).
This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes.
Reports related to TEK (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism||Satterstrom FK et al. (2020)||Yes||-|
Rare Variants (1)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.2789A>G||p.Asn930Ser||missense_variant||De novo||NA||Multiplex||31981491||Satterstrom FK et al. (2020)|
No common variants reported.