Table 1.
Core duplicons and disease-causing rearrangements
| Core | Locus | Phenotypea |
|---|---|---|
| NPIP | 16p11.2 | autism (1%), ID (0.6%) |
| NPIP | 16p13.1 | nonsyndromic ID (1%) |
| GLP/GOLGA -like protein | 15q11.2 | PW/AS, autism (1%) |
| GLP/GOLGA -like protein | 15q13.3 | epilepsy (1%), autism/ID (0.3%), schizophrenia (0.2%) |
| GLP/GOLGA -like protein | 15q24 | rare autism spectrum disorder |
| LRRC37 | 17q21.31 | 0.5% European ID syndrome |
| TBC1D3 | 17q12 | renal cyst and diabetes (RCAD) |
| TBC1D3 | 17p11.2 | Smith Magenis syndrome |
| NPBF | 1q21.1 | ID (0.5%), schizophrenia (0.3%), congenital heart defects |
a
ID indicates intellectual disability and developmental delay.