Welcome

Welcome to PTCHD1-base- a website devoted to accumulating, curating and disseminating information about the gene PTCHD1 and its encoded protein, including ongoing and published research efforts aimed at understanding its involvement in autism and intellectual disability.

PTCHD1 is a gene located on chromosome Xp22.11, and variants at this gene have been associated with autism spectrum disorder and intellectual disability.

The website hosts the first database of PTCHD1 variants related to disease, as well as lists of variants believed to be polymorphisms and unrelated to disease, and those where association to disease cannot yet be determined. We will update the database with newly published data. We also welcome input from the scientific and medical communities, particularly additional information regarding previously reported variants as well as new variants.

We also hope that this site will become a forum for researchers to discuss ideas, exchange technical advice and findings related to PTCHD1, that will help advance the research community’s collective knowledge of this gene and how its disruption leads to such devastating consequences.