In P3, three top performing teams, Team 9 (Invitae Moon), Team 5 (Exomiser), and Team 11 (enGenome), prioritized a de novo variant in TCF4 (c.1228 + 3G > T, ENST00000398339), a disease gene associated with dominant Pitt-Hopkins syndrome (PHS, MIM 610954). Here, TCF4 is linked to Pallister-Hall syndrome.