16p11.2 Genes

What genes are involved in a typical 16p11.2 deletion or duplication?

Some deletions may involve more genes than the ones listed here, and other deletions may include fewer. The information below is intented to give you a general overview of how we think about genes and the resulting problems that can happen when a gene is missing (because of a deletion). If you have specific questions about your deletion, you can always ask your genetic counselor about the genes in your deletion. As a Simons VIP Connect member, you can Ask an Expert these questions, too!

  • SPN - Important in immune function.
  • QPRT - Has been implicated in some neurodegenerative conditions.
  • KIF22 - Important for copying DNA correctly.
  • MAZ - Important for copying DNA correctly.
  • PRRT2 - Important in early brain development.
  • MVP - May be implicated in drug metabolism, interacts with PTEN gene.
  • CDIPT - Important for delivering messages within and/or between cells.
  • KCTD13 - Joins with another gene that is important in copying DNA correctly; may be related to muscle issues.
  • TAOK2 - Important for delivering messages within and/or between cells.
  • HIRIP3 - Important in chromatin remodeling (this is like “behind-the-scenes” work with preparing DNA to be used, read, or copied).
  • FAM57B - May be involved in creating fat cells.
  • ALDOA - Has caused been identified as one of the causes of Glycogen storage disease type XII. People with deletions are not often affected by the disease, but are carriers for it.
  • PPP4C - Important to fixing DNA that has develops errors over time.
  • TBX6 - Deletions of this gene may cause errors with some early cells that make skeletal muscle, and may be related to differences in the vertebrae.
  • YPEL3 - Important for copying DNA correctly/
  • MAPK3 - Important for sending visual messages from the eye to the brain.
  • CORO1A - Important role in maintaining healthy immune system.