Table 1 Duplications involving the VAMP7, SPRY3 and IL9R genes, highlighted alone or together with other CNVs in the same patient as reported in the Decipher database. The phenotype highlighted in each case, the size of the CNV and its classification/interpretation is also reported
Decipher n. | CNV size | Genes involved | Phenotype | N. of CNV | Classification |
|---|---|---|---|---|---|
283,573 | 289,76 Kb | VAMP7-SPRY3-IL9R | Anomalies of the nervous system | 4 | Unknown |
287,906 | 272,18 Kb | VAMP7-SPRY3-IL9R | Intellectual disability | 4 | Likely benign |
295,447 | 204,25 Kb | VAMP7-SPRY3 | Autism | 1 | Unknown |
289,826 | 224,04 Kb | VAMP7-SPRY3 | Intellectual disability | 4 | Likely benign (maternal) |
288,136 | 258,43 Kb | VAMP7-SPRY3-IL9R | Intellectual disability | 4 | Unknown |
266,523 | 258,19 Kb | VAMP7-SPRY3-IL9R | Autism | 3 | Unknown |
295,234 | 232,44 Kb | VAMP7-SPRY3 | Cognitive impairment | 3 | Unknown |
287,714 | 147,3 Kb | VAMP7-IL9R | ? | 4 | Unknown (de novo) |
341,563 | 289,99 Kb | VAMP7-SPRY3-IL9R | Language delay | 1 | Likely benign |
369,986 | 213,42 Kb | VAMP7-SPRY3 | Intellectual disability | 3 | Unknown |