Table 1

Clinical and genetic features of NOTCH2 probands

Proband	Liver	Cardiac	Renal	Eye	Skeletal	Facies	Mutation
1 CC	Cholestasis, bile duct paucity	Pulmonary artery stenosis	Vesico-ureteric reflux	Posterior embryotoxon	Normal spine	Present	p.Cys373Arg
2 CC	Cholestasis	Atrial septal defect	Echogenicity of kidneys	NE	Butterfly vertebrae	Absent	p.Arg2003X
3 CC	Cholestasis, bile duct proliferation, hepatic mass	Atrial septal defect, mild pulmonary stenosis	Normal	Posterior embryotoxon	Normal spine	Absent	p.Pro394Ser
4 NC	Elevated LFTs, bile duct paucity	Normal	NE	Posterior embryotoxon	Normal spine	Absent	p.Pro383Ser
5 NC	Cholestasis, bile duct paucity	Normal	Normal	Normal	Normal spine	Absent	p.Ser856fs16x
6 NC	Cholestasis, portal hypertension	Mild pulmonary stenosis	Normal	Normal	Normal spine	Absent	p.Arg1953Cys
7 NC	Cholestasis, bile duct paucity	Normal	Normal	Cataracts	Normal spine	Absent	p.Arg1953His (p.Ile681Asn)
8 NC	Bile duct paucity	Normal	Normal	NE	Normal spine	Absent	p.Cys480Arg

9^* CC	Cholestasis	Pulmonary stenosis	Neonatal renal failure	Normal	Normal spine	Present	c.5930-1G→A
10^* CC	Cholestasis	Tetralogy of Fallot	Renal failure	Posterior embryotoxon	Normal spine	Absent	p.Cys444Tyr

↵* Patients reported in original paper, McDaniell et al, 2006.
ALGS, Alagille syndrome; CC, consistent with ALGS per classic diagnostic criteria; NC, not consistent with classic ALGS, partial diagnostic criteria only; NE, not evaluated.