January 2023 Update: New Simons Searchlight Data Added to SFARI Base

January 25, 2023

New Simons Searchlight data were recently added to SFARI Base. The data released included phenotypic data from individuals with 16p11.2 copy number variant (CNVs), 1q21.1 CNVs, 7q11.23 duplication and variants in 32 single genes associated with autism and related neurodevelopmental conditions.

Autism Research Initiative (SFARI)

The Simons Foundation Autism Research Initiative (SFARI) is pleased to announce that Simons Searchlight has released new data for use in research studies. Approved investigators can request the data via SFARI Base.

38 carriers of the 15q11.2 BP1-BP2 deletion
9 carriers of the 15q13.3 deletion
332 carriers of the 16p11.2 deletion
54 carriers of the 16p11.2 distal deletion
226 carriers of the 16p11.2 duplication
20 carriers of the 16p11.2 distal duplication
8 carriers of the 16p12.1 deletion
6 carriers of the 17q12 duplication
93 carriers of the 1q21.1 deletion
110 carriers of the 1q21.1 duplication
8 carriers of the 2p16.3 deletion
25 carriers of the 7q11.23 duplication

31 individuals with ADNP mutations
10 individuals with ANK2 mutations
27 individuals with ANKRD11 mutations
22 individuals with ARID1B mutations
9 individuals with ASH1L mutations
75 individuals with ASXL3 mutations
15 individuals with AUTS2 mutations
5 individuals with BRSK2 mutations
44 individuals with CHAMP1 mutations
15 individuals with CHD2 mutations
6 individuals with CHD3 mutations
22 individuals with CHD8 mutations
16 individuals with CLCN4 mutations
9 individuals with CSDE1 mutations
74 individuals with CSNK2A1 mutations
17 individuals with CSNK2B mutations
5 individuals with CTBP1 mutations
142 individuals with CTNNB1 mutations
12 individuals with CUL3 mutations
8 individuals with DDX3X mutations
10 individuals with DEAF1 mutations
26 individuals with DLG4 mutations
9 individuals with DNMT3A mutations
6 individuals with DYNC1H1 mutations
47 individuals with DYRK1A mutations
11 individuals with EHMT1 mutations
6 individuals EIF3F mutations
17 individuals with FOXP1 mutations
5 individuals with GIGYF1 mutations
13 individuals with GRIN1 mutations
11 individuals with GRIN2A mutations
92 individuals with GRIN2B mutations
9 individuals with HECW2 mutations
40 individuals with HIVEP2 mutations
43 individuals with HNRNPH2 mutations
7 individuals with HNRNPU mutations
15 individuals with IRF2BPL mutations
10 individuals with KDM5B mutations
14 individuals with KDM6B mutations
11 individuals with KMT2C mutations
8 individuals with KMT2E mutations
11 individuals with KMT5B mutations
7 individuals with MBD5 mutations
12 individuals with MED13 mutations
84 individuals with MED13L mutations
11 individuals with MEF2C mutations
9 individuals with MYT1L mutations
7 individuals with NEXMIF mutations
8 individuals with NR4A2 mutations
6 individuals with NRXN1 mutations
34 individuals with PACS1 mutations
15 individuals with PPP2R1A mutations
130 individuals with PPP2R5D mutations
14 individuals with PPP3CA mutations
11 individuals with PTCHD1 mutations
7 individuals with SCN1A mutations
5 individuals with SCN1B mutations
199 individuals with SCN2A mutations
59 individuals with SETBP1 mutations
16 individuals with SETD5 mutations
7 individuals with SIN3A mutations
114 individuals with SLC6A1 mutations
5 individuals with SMARCA4 mutations
5 individuals with SMARCC2 mutations
5 individuals with SOX5 mutations
187 individuals with STXBP1 mutations
86 individuals with SYNGAP1 mutations
16 individuals with TANC2 mutations
10 individuals with TAOK1 mutations
17 individuals with TBR1 mutations
7 individuals with TCF20 mutations
7 individuals with TLK2 mutations
11 individuals with TRIO mutations
19 individuals with TRIP12 mutations
5 individuals with UPF3B mutations
8 individuals with USP9X mutations
21 individuals with VPS13B mutations
6 individuals with WAC mutations
15 individuals with WDFY3 mutations

Detailed medical, developmental and behavioral data collected through online surveys and phone interviews are available. In addition, biospecimens are available from participants who have contributed blood samples.

Updated summary data files for the Medical History Interview, Previous Diagnosis Interview
and Seizure History Survey
836 new Vineland-3 records
1,190 new QI-Disability records
Revised lab results file including variant information and revised variant classifications
Updated developmental milestone data, including mobility and communication
Longitudinal seizure survey data, aligned with the Rare Epilepsy Network

To see a complete list of the measures available and the corresponding number of individuals with each genetic disorder for each measure, please click here.

The data are available for use by all approved researchers, regardless of SFARI funding. Research projects are not restricted to autism or other neurodevelopmental conditions. There is a six-month embargo on the genomic data, but there is no embargo on phenotypic data.

Researchers can log in to SFARI Base and apply to use the data. The application will be reviewed by SFARI staff, and once approved, researchers will be provided with information on how to download the data.

Researchers who have previously applied and been approved to access SPARK phenotypic data (i.e., from an earlier SPARK data release) will automatically have access to this latest data release. Simply log in to SFARI Base to view and download the latest data set.