What is a GNB1-related disorder?
GNB1-related genetic disorder is caused by changes in the GNB1 gene. The GNB1 gene is located on chromosome 1 and is expressed in all cells of the body. Changes in the GNB1 gene have been associated with developmental delay, low muscle tone and epilepsy, among other medical issues.
Only 46 individuals with GNB1-related disorder are currently known around the world, so we are still learning more about this condition.
How do you test for a GNB1-related disorder?
The testing can be arranged by a pediatrician or a geneticist and involves a blood or saliva collection. The DNA is tested for a genetic change in the GNB1 gene.
How is GNB1-related disorder inherited?
Almost all individuals with GNB1-related disorder who are currently known have a new (‘de novo’) genetic change in the GNB1 variant. This means that it is a new genetic change for them and not inherited from the family. If an individual with a GNB1 variant had children, the risk of passing along the genetic change to his/her children would be 50% or ½.