significant in craniofacial cases, with the peak significance focused at SLC1A1 (peak p = 0.00172), a high affinity glutamate transporter previously implicated in multiple neurological conditions30. This peak, specific to SLC1A1, is also significant in neurological, craniofacial and epilepsy cases. A 2q37 deletion immediately proximal to the 2q37 deletion region (Table 1) containing 15 genes is enriched primarily in neurological (modal p = 0.00479) and epilepsy (modal p = 0.00542) phenotypes and contains genes associated with neurodevelopmental and sleep phase disturbances (GBX2 and PER2)31,32. Finally, the deletion of PARD3 is significant in autism (p = 0.01023). PARD3 has been previously associated with bipolar disease33 and is involved in both tight junctions formation and axonal fate determination34.
