New Simons VIP Phase 2 data were added to SFARI Base in July 2017. A summary of the available data is listed below.

Copy number variants:

• Data from 147 carriers of the 16p11.2 deletion and 76 carriers of the duplication (all enrolled in the Phase 2 study) are now available. This brings the total number of 16p11.2 deletion and duplication families enrolled in Simons VIP (Phases 1 and 2 combined) to 212 and 153, respectively.
• Data from 39 carriers of the 1q21.1 deletion and 22 carriers of the duplication (all enrolled in the Phase 2 study) are now available. This brings the total number of 1q21.1 deletion and duplication families enrolled in Simons VIP (Phases 1 and 2 combined) to 56 and 42, respectively.

Single genes:

Data from the following individuals with mutations in single genes (all enrolled in the Phase 2 study) are now available:

• 47 individuals with mutations in SCN2A
• 18 individuals with mutations in GRIN2B
• 15 individuals with mutations in PACS1
• 14 individuals with mutations in PPP2R5D
• 11 individuals with mutations in ADNP
• 7 individuals with mutations in MED13L
• 7 individuals with mutations in STXBP1
• 6 individuals with mutations in HIVEP2
• 5 individuals with mutations in SYNGAP1

Detailed medical history, phenotyping data and biospecimens (collected via clinical site visits) are available for families enrolled in Phase 1 of Simons VIP.

Medical, developmental and behavioral information (collected through online surveys and phone interviews with families) is available for families enrolled in Phase 2. In addition, biospecimens have been collected from some Phase 2 participants. Enrollment in Simons VIP Phase 2 is ongoing, and additional data and biospecimens will be made available later this year.

Structural and functional magnetic resonance imaging (MRI) data and magnetoencephalography (MEG) data are available for many participants enrolled in Phase 1.

Genetic data are also 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 6 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 VIP data are available here

(select the filter “Uses Resources From: Simons VIP”)

• 52 single genes associated with neurodevelopmental differences and features of autism are being studied as part of Phase 2. The complete gene list is available here.
• Families interested in participating in the Phase 2 study can register online at Simons VIP Connect or can call (855) 329-5638 for more information.