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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

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

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