Table 2.

Genetic findings in patients with Currarino syndrome

Case No.	Gene	Exon No.	Nucleotide change	Amino acid change	Mutation type	Inheritance	Reported	ACMG classification	Evidence of pathogenicity
1	MNX1	1	c.124G > T	p.Gly42X	Nonsense	Maternal	No	Pathogenic	PVS1 PM2 PP4
2	MNX1	1	c.669-672delGCCT	p.Leu223Leufsa61	Frameshift	Maternal	No	Pathogenic	PVS1 PM2 PP4
3	MNX1	1	c.264C > A	p.Cys88X	Nonsense	de novo	No	Pathogenic	PVS1 PS2 PM2 PP4
4	MNX1	1	c.401-402insCGCCGC	p.Ala135insAlaAla	Inframe insertion	NA	Yes	Uncertain significance	PM6 BP6
5a	MNX1	3	c.1205insCACCAGCCCGCGCCCCAGT	p.X402Serfsa70	Frameshift	Paternal	No	Pathogenic	PVS1 PM2 PP1 PP4
6a	MNX1	1	c.70C > T	p.Gln24X	Nonsense	Paternal	No	Pathogenic	PVS1 PM2 PP1 PP4
7a	MNX1	1	c.70C > T	p.Gln24X	Nonsense	Paternal	No	Pathogenic	PVS1 PM2 PP1 PP4
8a	MNX1	Intron 1	c.691 + 3G > T	–	Splice region mutation	Maternal	No	Likely pathogenic	PS3 PM2 PP1 PP4
9	MNX1	3	c.863G > T	p.Trp288Leu	Missense	Paternal	Yes	Likely pathogenic	PS1 PM2 PP3
10	MNX1	2	c.723C > A	p.Cys241X	Nonsense	Maternal	No	Pathogenic	PVS1 PM2 PP1 PP4
11	MNX1	Intron 1	c.691 + 3G > T	–	Splice region mutation	de novo	No	Pathogenic	PS2 PS3 PM2 PP4
12	TLE4	17	c.1949C > T	p.Ser650Leu	Missense	de novo	No	Likely pathogenic	PS2 PM2 PP3 PP4
	HOXB4	1	c.48G > T	p.Lys16Asn	Missense	de novo	No	Likely pathogenic	PS2 PM2 PP3 PP4
13	ITIH2	13	c.1623_1626delAGAG	p.Ile541Ilefsa12	Frameshift	de novo	0.00003252 in gnomAD	Likely pathogenic	PS2 PM2 PP4
14	CDH2	3	c.453G > T	p.Arg151Ser	Missense	de novo	No	Likely pathogenic	PS2 PM2 PP3 PP4

^aFamilial case

Abbreviation: NA not available