GRIA1/GRIA2/GRIA3/GRIA4

Molecular Characteristics

Molecular characteristics
Both missense and truncations are disease-causing.

In the case of GRIA3, the inheritance is X-linked, but both males and females can be affected. This is not attributed to skewed X-inactivation but instead that variants in males are resulting in a loss-of-function while variants in females normally cause a gain-of-function.