PhenomeGene — Human Disease Gene Website SeriesARID1A

Molecular characteristics

Thus far all of the mutations in the ARID1A gene found in humans have arisen spontaneously. In other words, they were not inherited from a parent. The chance of recurrence for future pregnancies is considered low (probably <1%). Patients with an ARID1A gene mutation have not been known to have children. Children would have a 50% probability of inheriting the mutation. We cannot predict the degree in which they will be affected by this mutation.