. Author manuscript; available in PMC: 2016 Dec 1.

Published in final edited form as: Am J Med Genet A. 2016 Sep 8;170(12):3157–3164. doi: 10.1002/ajmg.a.37953

Table IV.

Recurrent Rare CNVs in TS Cases with Left-Sided Lesions

Region	Type	Candidate Genes	Disease Gene	Animal Model	Prior CHD	Network	Total
7p15.2	Del	HOXA3,HOXA4,HOXA5,HOXA6,HOXA7,EVX1,HOXA9,HOXA10,HOXA11,HOXA13,HOTTIP	1	1	0	1	3
21q21.1	Dup^*/Del	CXADR,BTG3	0	1	1	0	2
13q12.11	Dup^*	ZMYM2,ZMYM5, GJA3,GJB6	0	0	1	1	2
18p11.32	Del	COLEC12,CETN1,CLUL1,C18ORF56,TYMS	0	1	1	0	2
1q43	Dup^*/Del	FH,KMO,WDR64,OPN3,CHML,PLD5	0	0	1	0	1
4q32.3	Dup^*/Del	TRIM60,TRIM61,TMEM192	0	0	0	0	0

Lists of candidate CNV regions ranked by prioritization scores. Region: in hg19 coordinates; Dup: duplication

disrupting duplication

Del: deletion; Disease Gene: mutations identified in subjects with congenital heart defects; Animal model: targeted disruption causes aortic and/or cardiac phenotypes; Prior CHD: CNVs discovered in subjects with congenital heart disease; Network: in top 10% of genes identified by ToppGene analysis using known BAV and TAAD genes as seeds.