Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

15q11.2 BP1-BP2 Deletion, 15Q13.3 Deletion Syndrome, 15q15 Deletions, 15Q24 Deletion, 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 16p13.3 Deletion, 17p13.3, 17Q11.2 Microduplication Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q12 Microdeletion Syndrome (Disorder), 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), 2p16.3 Deletions, 2q37.3 Deletion, 2Q37 Deletion Syndrome, 5P Deletion Syndrome, 5q35 Deletions, 5q35 Duplications, 6q16 Deletion, 7q11.23 Duplications, 9q34 Duplications, ACTB, ACTL6B, ADNP, ADSL, AFF2, AHDC1, ALDH5A1, ANK2, ANK3, ANKRD11, ARHGEF9, ARID1B, ARX, ASH1L, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BCL11A, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHAMP1, CHD2, CHD3, CHD8, CIC, CLCN4, CNOT3, CREBBP Gene Mutation, CSDE1, CSNK2A1, CSNK2B, CTBP1, CTCF, CTNNB1 Gene Mutation, CUL3, DDX3X, DEAF1, DHCR7, DLG4, DNMT3A, DSCAM, DYNC1H1, DYRK1A, EBF3, EHMT1, EIF3F, EP300 Gene Mutation, FOXP1, FOXP2, GIGYF1, GNB1, GRIN1, GRIN2A, GRIN2B, GRIN2D, HECW2, HIVEP2-Related Intellectual Disability, HNRNPC, HNRNPD, HNRNPH2, HNRNPK, HNRNPR, HNRNPU, HNRNPUL2, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, ITSN1, KANSL1, KATNAL2, KCNB1, KDM3B, KDM5B, KDM6B, KMT2A, KMT2C Gene Mutation, KMT2E, KMT5B, MAOA, MAOB, MBD5, MBOAT7, MED13, MED13L, MEF2C, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NEXMIF, NIPBL, NLGN2, NLGN3, NLGN4X, NR3C2, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PACS1, PACS2, PHF21A, PHF3, PHIP, PPM1D, PPP2R1A, PPP2R5D-Related Intellectual Disability, PPP3CA, PSMD12, PTCHD1, RALGAPB, RELN, RERE, REST, RFX3, RIMS1, RNU4-2, RORB, SCN1A, SCN1B, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD2 Gene Mutation, SETD5, SHANK2, SIN3A, SLC6A1, SLC9A6, SMARCA4 Gene Mutation, SMARCC2, SNAP25, SON, SOX5, SPAST, SRCAP, STXBP1 Encephalopathy With Epilepsy, SYNCRIP, SYNGAP1-Related Intellectual Disability, TANC2, TAOK1, TBR1, TCF20, TCF7L2 Gene Mutation, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, Xp11.22 Duplication, Xq28 Duplication, YY1, ZBTB20, ZNF292, ZNF462

16p11.2, 16p11.2 del, 16p11.2 deletion, 16p11.2 dup, 16p11.2 duplication, chromosome 16, chromosome 16p, chromosome 16p11, chromosome 16p11.2, 1q21.1, 1q21.1 del, 1q21.1 deletion, 1q21.1 dup, 1q21.1 duplication, chromosome 1, chromosome 1q, chromosome 1q21, chromosome 1q21.1, genetic mutation, genetic variant, gene variant, ADNP, ANKRD11, ARID1B, ASXL3, ACTL6B, AHDC1, BAF190, ANK2, ASH1L, BCL11A, CHD2, CHD8, CTNNB1, CUL3, DYRK1A, FOXP1, GRIN2B, KDM6B, KMT2E, MBD5, MED13L, REST, SCN2A, SMARCC2, SYNGAP1, HIVEP2, HNRNPH2, PPP2R5D, CHAMP1, CSNK2A1, CTBP1, DDX3X, DNMT3A, DSCAM, GRIN2A, KATNAL2, KDM5B, KMT2C, KMT5B, SUV420H1, PACS1, PTCHD1, SETBP1, SETD5, SMARCA4, STXBP1, TBR1, ARHGEF9, HNRNPU, PPP2B, PPP2R1A, SLC6A1, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment for these people. Simons Searchlight partners with families to collect data and distribute it to qualified researchers.

Simons Searchlight has expanded over the last several years to include additional gene changes and participation through remote formats, either online or by phone. This allows English and Spanish-speaking families from across the world to participate at times that are convenient to their schedule. Participants can donate blood, saliva, or both. These samples are then linked to medical, behavioral, learning, and developmental data in order to understand the effects of specific gene changes. Information provided by participants will be stripped of any personal identifying information and made available to qualified scientists around the world. The Simons Foundation, a New York-based private foundation, is committed to finding science-based solutions and working towards the development of targeted treatments to improve the lives of people who have genetic and developmental differences.

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