Pedigrees for participants with a rare alternate allele at one of the highlighted bases. Pedigrees used for discovery have a ‘G’ prefix and are labeled in black. NBR, 100KGP Pilot and GMS pedigrees used for replication have an ‘N’, ‘P’ or ‘S’ prefix, respectively, and are labeled in blue. The affection status for pedigree members who were not study participants was obtained from pedigree tables, except where the proband was assigned to a Specific Disease that was unrelated to neurodevelopmental disorders despite having an NDA (this applies to the nine grayed out members of G9, G17, G20 and G36). One variant was called homozygous for the reference allele in a parent but found to be mosaic by inspection of aligned WGS reads (#).
