Table 1. Characteristics of the patients and pre-screening results.

Family ID	Patient ID	Gender	Phenotype	Pre-screeninge	Inheritance	RET enhancer SNP (rs2435357)
1	III.3	Male	TCAa	Negative	–	T/T
1	II.2	Male	NAb	RET: c.2371T > A:p.Tyr791Asn	Maternal	T/C
2	II.4	Female	S-HSCRc	Negative	–	T/C
2	II.5	Male	S-HSCR	Negative	–	T/C
3	III.1	Male	S-HSCR	NTF3: c.226G > A:p.Gly76Arg	Paternal	T/T
3	III.2	Male	L-HSCRd	PHOX2B: c.741_761del SEMA3D:c.185_186insT:p.Leu62fs	Maternal	C/C
4	II.2	Male	NA	PHOX2B: c.745_765del	Maternal	T/T
4	II.8	Female	S-HSCR	Negative	–	T/C
5	I.2	Female	NA	Negative	–	C/C
5	II.1	Female	L-HSCR	RET: c.844G > T:p.Val282Leu	Paternal	C/C
6	II.2	Male	NA	Negative	–	T/C
6	II.1	Male	NA	Negative	–	T/C
7	III.1	Male	S-HSCR	Negative	–	T/T
7	IV.1	Male	S-HSCR	SEMA3D: c.592G > A:p.Glu198Lys	Maternal	T/C
8	II.1	Male	NA	EDNRB: c.466C > T:p.Pro156Ser	Paternal	T/T
8	II.2	Male	NA	EDNRB: c.466C > T:p.Pro156Ser	Paternal	T/T

^aTCA = total colonic aganglionosis.

^bNA = Not available data.

^cS-HSCR = short segment HSCR.

^dL-HSCR = long-segment HSCR.

^eDamaging variants were in bold.