Genetic Changes We Study

The Simons VIP team is studying both copy number variants (CNVs) and changes in one gene (or a "single" gene) that have been associated with features of autism spectrum disorder (ASD) and developmental delay. The variety of genetic changes are also called "variants"; we may use these words interchangeably.

The list of genetic variants we are studying, along with additional information and resources, is below. Note: Click on each gene below; you will be directed to a separate, unique page to view summary information about that gene. Some genes may have more information than others.

Why do we pick these genes?

Researchers knew very little about the 16p11.2 and 1q21.1 genetic changes and their association with autism spectrum disorder (ASD) and developmental problems when this study first began. We’ve been able to expand that body of knowledge enormously because families have participated in our study and have shared their experiences and health information.

We are committed to learning as much as we can about the genetics of developmental delay and features of autism because we know that families have faced many questions along the road of learning about their child’s genetic diagnosis. We know there isn’t always reliable information available for families regarding genetic changes identified through whole genome or exome sequencing and microarray testing in children who have developmental delay or features of autism.

With your help, we hope to have more information that can be provided to families who have received a diagnosis of a change in these genes in the future. How did these genetic changes make the list? This expansion of Simons VIP includes genetic changes that have been more recently identified in children who have some features of autism, unexplained behavioral differences, developmental problems, or a definitive diagnosis of autism. Some genetic changes have been seen many times and we may have more information to provide. Other genetic changes have only been seen a couple of times, and we may not know very much at all.

Eligibility for this study is determined by reviewing your family’s genetic testing report and confirming that the reported genomic variant is in a gene that we study. We apply the American College of Medical Genetics and Genomics’ (ACMG) guidelines for variant interpretation to label each variant in our research database. Any variant that is disease causing, likely-disease causing, or unknown significance, is eligible for our study. It is important to note that inclusion in this study does not assess whether or not this variant is the cause of your child’s symptoms; this can only be determined by your child’s medical providers. Please feel free to contact us if you have questions. To learn more about genetic changes in general, see our website,

If your child has a change in one of the new genes we’ve added, it’s likely that he or she has some differences in the way they interact with others, communicate, and/or in their behaviors. We know that children with these genetic changes may not have a diagnosis of autism, but most will have some of the features we describe in the section “What is Autism?” under “Learn about Genetics."