Skip to main content

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

From: Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report

Decipher n.CNV sizeGenes involvedPhenotypeN. of CNVClassification
283,573289,76 KbVAMP7-SPRY3-IL9RAnomalies of the nervous system4Unknown
287,906272,18 KbVAMP7-SPRY3-IL9RIntellectual disability4Likely benign
295,447204,25 KbVAMP7-SPRY3Autism1Unknown
289,826224,04 KbVAMP7-SPRY3Intellectual disability4Likely benign (maternal)
288,136258,43 KbVAMP7-SPRY3-IL9RIntellectual disability4Unknown
266,523258,19 KbVAMP7-SPRY3-IL9RAutism3Unknown
295,234232,44 KbVAMP7-SPRY3Cognitive impairment3Unknown
287,714147,3 KbVAMP7-IL9R?4Unknown (de novo)
341,563289,99 KbVAMP7-SPRY3-IL9RLanguage delay1Likely benign
369,986213,42 KbVAMP7-SPRY3Intellectual disability3Unknown