SETBP1 haploinsufficiency disorder (SETBP1-HD) is an ultra rare, genetic neurodevelopmental disorder. SETBP1-HD is caused by a loss-of-function change on one copy of the two copies of the SETBP1 gene. There are also some changes on one copy of the SETBP1 gene where we do not know how the SETBP1 function is impacted. For changes where we know SETBP1 function is impacted but we don’t know how, we refer to this disorder as SETBP1-related disorder. We need to learn more about the molecular impact of these specific SETBP1 variants. There are also some SETBP1 variants (typically missense) where we do not even know if SETBP1 function is impacted. These variants are referred to as variants of uncertain significance (VUS). All of thesee SETBP1 changes can occur in just about any location on the SETBP1 gene. The 4th group is where there are documented SETBP1 changes on one copy of the two copies of the SETBP1 gene which causes a gain-of-function and is located in or just outside a ‘hotspot’ region (868-871). These SETBP1 changes cause a different and distinct syndrome called Schinzel-Giedion Syndrome (SGS).

This dashboard was developed to track and document the first 3 scenarios – SETBP1-HD, SETBP1-related disorder and SETBP1 variants of uncertain significance (VUS). The VUS’ mentioned are only those reported by a SETBP1 community member.

Currently, the dashboard will answer the following questions:

• How many individuals have SETBP1-HD, SETBP1-related disorder, and/or a SETBP1 VUS?
• How many SETBP1 variants are pathogenic (disease-causing), likely pathogenic, or of uncertain significance?
• What are the documented SETBP1 variants?
• How many SETBP1 variants are reported as de novo (spontaneous) vs inherited?
• Where can I find a list of all the reported SETBP1 variants

View the SETBP1 Dashboard!

In the future, we will make additional resources available on the SETBP1 Dashboard. If you have a suggestion of something you would like to see on the SETBP1 Dashboard, please fill out the request below.