Copy number variants:
- Data from 175 carriers of the 16p11.2 deletion and 94 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 253 and 172, respectively.
- Data from 44 carriers of the 1q21.1 deletion and 31 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 62 and 51, respectively.
Data from the following individuals with mutations in single genes (all enrolled in the Phase 2 study) are now available:
- 15 individuals with ADNP mutations
- 26 individuals with ASXL3 mutations
- 7 individuals with CHAMP1 mutations
- 5 individuals with CHD8 mutations
- 10 individuals with CSNK2A1 mutations
- 12 individuals with DYRK1A mutations
- 30 individuals with GRIN2B mutations
- 10 individuals with HIVEP2 mutations
- 11 individuals with HNRNPH2 mutations
- 14 individuals with MED13L mutations
- 20 individuals with PACS1 mutations
- 28 individuals with PPP2R5D mutations
- 83 individuals with SCN2A mutations
- 8 individuals with SETBP1 mutations
- 32 individuals with STXBP1 mutations
- 23 individuals with SYNGAP1 mutations
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 in early 2019.
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.
- Publications resulting from Simons VIP data are available here (select the filter “Uses Resources From: Simons VIP”).
- 53 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.