Simons Searchlight: July 2022 Data Release

July 27, 2022

New phenotypic data from Simons Searchlight participants were recently added to SFARI Base. This release includes data from individuals with 59 gene changes and nine copy number variants known to be connected to autism.

Autism Research Initiative (SFARI)

New phenotypic data from Simons Searchlight participants were recently added to SFARI Base. The release includes data from individuals with 59 gene changes and nine copy number variants (CNVs), including new data for 27 genes and two CNVs. Researchers interested in accessing data from Simons Searchlight may submit a request through SFARI Base.

A summary of the data is provided below:

Copy number variants (CNVs):

7 carriers of the 15q13.3 deletion
332 carriers of the 16p11.2 deletion
46 carriers of the 16p11.2 distal deletion
226 carriers of the 16p11.2 duplication
18 carriers of the 16p11.2 distal duplication
8 carriers of the 16p12.1 deletion
79 carriers of the 1q21.1 deletion
94 carriers of the 1q21.1 duplication
24 carriers of the 7q11.23 duplication

Single genes:

28 individuals with ADNP mutations
10 individuals with ANK2 mutations
22 individuals with ANKRD11 mutations
17 individuals with ARID1B mutations
7 individuals with ASH1L mutations
68 individuals with ASXL3 mutations
10 individuals with AUTS2 mutations
37 individuals with CHAMP1 mutations
13 individuals with CHD2 mutations
6 individuals with CHD3 mutations
19 individuals with CHD8 mutations
60 individuals with CSNK2A1 mutations
10 individuals with CSNK2B mutations
110 individuals with CTNNB1 mutations
5 individuals with CUL3 mutations
5 individuals with DDX3X mutations
6 individuals with DEAF1 mutations
6 individuals with DNMT3A mutations
42 individuals with DYRK1A mutations
9 individuals with EHMT1 mutations
15 individuals with FOXP1 mutations
9 individuals with GRIN1 mutations
9 individuals with GRIN2A mutations
80 individuals with GRIN2B mutations
30 individuals with HIVEP2 mutations
29 individuals with HNRNPH2 mutations
6 individuals with HNRNPU mutations
9 individuals with IRF2BPL mutations
5 individuals with KDM5B mutations
6 individuals with KDM6B mutations
9 individuals with KMT2C mutations
6 individuals with KMT2E mutations
6 individuals with MBD5 mutations
5 individuals with MED13 mutations
53 individuals with MED13L mutations
5 individuals with MYT1L mutations
6 individuals with NR4A2 mutations
6 individuals with NRXN1 mutations
30 individuals with PACS1 mutations
11 individuals with PPP2R1A mutations
101 individuals with PPP2R5D mutations
6 individuals with PPP3CA mutations
8 individuals with PTCHD1 mutations
5 individuals with SCN1B mutations
174 individuals with SCN2A mutations
52 individuals with SETBP1 mutations
9 individuals with SETD5 mutations
5 individuals with SIN3A mutations
93 individuals with SLC6A1 mutations
142 individuals with STXBP1 mutations
65 individuals with SYNGAP1 mutations
6 individuals with TANC2 mutations
6 individuals with TAOK1 mutations
11 individuals with TBR1 mutations
5 individuals with TLK2 mutations
16 individuals with TRIP12 mutations
17 individuals with VPS13B mutations
6 individuals with WAC mutations
7 individuals with WDFY3 mutations

Select phenotyping measures include:

Medical History Interview – Conducted by a licensed genetic counselor
Vineland Adaptive Behavior Scales, Second Edition
Children’s Sleep Habits Questionnaire
Seizure History Survey (Version 2)
Medications History Interview

In addition to phenotypic data, biospecimens from participants with genetic changes in select CNVs and genes are also available to approved researchers. Biospecimens include cell lines (fibroblasts, lymphoblastoids and induced pluripotent stem cells) and DNA (derived from saliva, lymphoblastoids or whole blood). A complete list of currently available biospecimen data can be found here.

To date, Simons Searchlight has studied 153 single genes and 23 CNVs with a documented association with autism and related genetic neurodevelopmental conditions. The complete gene/CNV list is available here. Researchers interested in publications using Simons Searchlight data can find all publications here (select the filter “Uses Resources From: Simons Searchlight”).