Table 1.

Genes included in the targeted gene panel and the criteria on which their selection was based.

Context	Gene	Incidence	References
BAV in humans	NOTCH1	Mutations found in 27 BAV patients	Mohamed et al., 1797; Garg et al., 2005; McKellar et al., 2007; Foffa et al., 2013; Kent et al., 2013; Bonachea et al., 2014; Freylikhman et al., 2014; Kerstjens-Frederikse et al., 2016
	SMAD6	Mutations found in 2 BAV patients	Tan et al., 2012
	MAT2A	Mutations found in 1 BAV patient	Guo et al., 2015
BAV in mice	ACVR1	BAV in 78–83% of Alk2FXKO/Gata5−Cre+ mice	Thomas et al., 2012
	GATA4	BAV in 43% of Gata4+/−;Gata5+/− mice	Laforest and Nemer, 2011
	GATA5	BAV in 25% of Gata5−/− mice	Laforest et al., 2011
	GATA6	BAV in 25% Gata5+/−;Gata6+/− mice	Laforest and Nemer, 2011
	MATR3	BAV in 12% in Matr3+/− mice	Quintero-Rivera et al., 2015
	NKX2-5	BAV in 2–20% of Nkx2-5+/− mice	Biben et al., 2000
	NOS3	BAV in 42% of Nos3−/− mice	Lee et al., 2000
	ROBO1	BAV in 100% of Robo1−/−;Robo2−/− mice	Mommersteeg et al., 2015
	ROBO2	BAV in 100% of Robo1−/−;Robo2−/− mice	Mommersteeg et al., 2015
BAV in (non)syndromic TAA cases	FBN1	Occasional BAV in Marfan syndrome	Attias et al., 2009; Nistri et al., 2012; Pepe et al., 2014
	ACTA2	7% BAV in non-syndromic TAA	Guo et al., 2007
	ELN	Occasional BAV in cutis laxa	Callewaert et al., 2011
	FLNA	Occasional BAV in X-linked valve disease	Jefferies et al., 2010
	MYH11	Occasional BAV in non-syndromic TAA	Personal observation
	SMAD3	3–11% BAV in Loeys-Dietz syndrome	van de Laar et al., 2012
	TGFB2	8–13% BAV in Loeys-Dietz syndrome	Lindsay et al., 2012
	TGFB3	4% BAV in Loeys-Dietz syndrome	Personal observation
	TGFBR1	8–12% BAV in Loeys-Dietz syndrome	Personal observation
	TGFBR2	8–12% BAV in Loeys-Dietz syndrome	Personal observation

BAV, Bicuspid aortic valve; TAA, Thoracic aortic aneurysm.