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

Table 2 Duplications involving the VAMP7, SPRY3 and IL9R genes, highlighted alone or together with other CNVs in the same patient as reported in the ClinGen database. The phenotype highlighted in each case, the size of the CNV and its classification/interpretation is also reported

NSSV-NSV	CNV size	Genes involved	Phenotype	N° of CNV	Classification
581510–529342	195,2 Kb	SYBL1-SPRY3	Autism	1	unknown
581511–532993	305 Kb	SYBL1-SPRY3-IL9R	Developmental delay	1	unknown
581512–532924	285,9 Kb	SYBL1-SPRY3	Developmental delay	1	unknown
1604719–915617	258,2 Kb	SYBL1-SPRY3-IL9R (part.)	Developmental delay	3	likely benign
1601341–915617	258,2 Kb	SYBL1-SPRY3-IL9R (part.)	Autism	3	likely benign
1603110–916312	115,6 Kb	SYBL1 (part.)-SPRY3 (part.)	Developmental delay	1	likely benign
581513–532995	185,2 Kb	SYBL1-SPRY3 (part.)	Behavioral anomalies	1	unknown
1609838–931742	131,4 Kb	SYBL1 (part.)-IL9R	Developmental delay	1	benign

ISSN: 1755-8166