COL8A1 and Timothy syndrome: When considering the trio data, the lack of a straightforward co-segregation between the structural variants observed in our study and the TS phenotype implies the involvement of further predisposing loci in the aetiology of TS; however, this is not unexpected for such a phenotypically and genetically complex condition and does not conflict with a role for NRXN1 or COL8A1 in TS predisposition.