Table 2.

Likely pathogenic variants in probands with syndromic CS

Kindred identification	Type of CS	Gene	Impact	Inheritance	ExAC frequency	pLI
SAG249	Sagittal	TFAP2B	M1I (start loss)	Inherited (unaffected parent)	0	0.99
MET268	Metopic	TFAP2B	K276R	De novo	0	0.99
MET271	Metopic	TFAP2B	IVS3+2 T > A	De novo	0	0.99
MET117	Metopic	TFAP2B	R382X	Inherited (affected parent)	0	0.99
SAG250	Sagittal and metopic	KAT6A	E1221X	De novo	0	1
LAM108	Lambdoid	SOX11	R64H	De novo	0	0.34
PSAG38	Sagittal	GLI2	A551T	De novo	0	1
MET188	Metopic	GPC4	V152fs	De novo in mother	0	0.95
SAG359	Sagittal	CTNNA1	V374_375insSWKMK	De novo	0	0.97