Simons Searchlight: April 2021 data release

New Simons Searchlight data were added to SFARI Base in April 2021.

Phenotypic data from more than 1,700 individuals are now available for use by researchers studying autism or related neurodevelopmental conditions. More information about how to request access to this data is available here.

Copy number variants (CNVs):

331 carriers of the 16p11.2 deletion (145 of these individuals were enrolled in Phase 1, 36 of these are 16p11.2 distal deletion carriers)
209 carriers of the 16p11.2 duplication (130 of these individuals were enrolled in Phase 1, 10 of these are 16p11.2 distal duplication carriers)
73 carriers of the 1q21.1 deletion (23 of these individuals were enrolled in Phase 1)
85 carriers of the 1q21.1 duplication (27 of these individuals were enrolled in Phase 1)
12 carriers of the 7q11.23 duplication (none of these individuals were enrolled in Phase 1)

Single genes (all individuals enrolled in phase 2)*:

24 individuals with ADNP mutations
14 individuals with ANKRD11 mutations
14 individuals with ARID1B mutations
57 individuals with ASXL3 mutations
33 individuals with CHAMP1 mutations
11 individuals with CHD2 mutations
11 individuals with CHD8 mutations
30 individuals with CSNK2A1 mutations
51 individuals with CTNNB1 mutations
34 individuals with DYRK1A mutations
11 individuals with FOXP1 mutations
7 individuals with GRIN1 mutations
6 individuals with GRIN2A mutations
63 individuals with GRIN2B mutations
24 individuals with HIVEP2 mutations
25 individuals with HNRNPH2 mutations
5 individuals with MBD5 mutations
40 individuals with MED13L mutations
27 individuals with PACS1 mutations
7 individuals with PPP2R1A mutations
80 individuals with PPP2R5D mutations
5 individuals with PTCHD1 mutations
150 individuals with SCN2A mutations
35 individuals with SETBP1 mutations
6 individuals with SETD5 mutations
66 individuals with SLC6A1 mutations
107 individuals with STXBP1 mutations
52 individuals with SYNGAP1 mutations
6 individuals with TBR1 mutations
9 individuals with TRIP12 mutations
8 individuals with VPS13B mutations
5 individuals with WAC mutations

* A complete list of the individual genetic variants that have been found in Simons Searchlight participants for each of these 32 single genes is now available (PDF, Excel spreadsheet). Variants included are classified as pathogenic, likely pathogenic or variants of uncertain significance (VUS). Where variants are found in more than one participant, counts are indicated in brackets.

Detailed medical history and developmental and behavioral information (collected via clinical site visits) are available for families enrolled in phase 1. Structural and functional magnetic resonance imaging (MRI) data and magnetoencephalography (MEG) data are available for many participants enrolled in phase 1.

Medical, developmental and behavioral information (collected through online surveys and phone interviews with families) are available for families who are participating in phase 2. Medical history interviews are updated with participants yearly.

Biospecimens, including cell lines (fibroblasts, lymphoblastoids and induced pluripotent stem cells) and DNA (derived from saliva, lymphoblastoids or whole blood), are available for many participants. A complete list of what is currently available can be found here. Enrollment in Simons Searchlight is ongoing, and additional data and biospecimens will be made available to researchers later this year.

Genetic data are available for many participants enrolled in phase 1. Single-nucleotide polymorphism (SNP) microarray data are available for 126 phase-1 families (probands with 16p11.2 deletions/duplications, parents and siblings [if present]). Whole-exome sequencing (WES) data are available for 162 phase-1 families (probands with 16p11.2 deletions/duplications, parents and siblings [if present]). Whole-genome sequencing (WGS) data are available for six carriers of the 16p11.2 deletion. Molecular inversion probe (MIP) sequencing data around the 16p11.2 rearrangement breakpoints are available for 78 carriers of the 16p11.2 deletion and 70 carriers of the 16p11.2 duplication.

Additional information

Publications resulting from Simons Searchlight data are available here (select the filter “Uses Resources From: Simons Searchlight”).
147 single genes and 20 CNVs that are known to be associated with autism and other neurodevelopmental conditions are being studied as part of Simons Searchlight. The complete gene/CNV list is available here.
Families interested in participating in Simons Searchlight can register online or call (855) 329-5638 for more information.