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”).