Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
MNX1	gene	MNX1	Expert Review Green;Literature;Other;Radboud University Medical Center, Nijmegen	Currarino triad			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CURRARINO SYNDROME;Currarino syndrome;Currarino syndrome,176450						False	3	100;0;0	1.2	False		ENSG00000130675	ENSG00000130675	HGNC:4979													
FUZ	gene	FUZ	Other	Currarino triad			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neural tube defects; Sacral agenesis						False	1	0;0;100	1.2	False		ENSG00000010361	ENSG00000010361	HGNC:26219													
GDF11	gene	GDF11	Other	Currarino triad			Unknown	anteroposterior patterning defects, renal and palatal agenesis, presacral mass, anorectal malformation, and exomphalos						False	1	0;0;100	1.2	False		ENSG00000135414	ENSG00000135414	HGNC:4216													
GDF6	gene	GDF6	Other	Currarino triad			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Klippel-Feil syndrome 1, autosomal dominant; sacral agenesis				3065353		False	1	0;0;100	1.2	False		ENSG00000156466	ENSG00000156466	HGNC:4221													
PAM16	gene	PAM16	Other	Currarino triad			BIALLELIC, autosomal or pseudoautosomal	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type; Partial sacral agenesis						False	1	0;0;100	1.2	False		ENSG00000217930	ENSG00000217930	HGNC:29679													
PCSK5	gene	PCSK5	Other	Currarino triad			Unknown	cardiac, tracheoesophageal, anorectal, and anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, presacral mass, renal and palatal agenesis, and pulmonary hypoplasia				18519639		False	1	0;0;100	1.2	False		ENSG00000099139	ENSG00000099139	HGNC:8747													
SHH	gene	SHH	Other	Currarino triad			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	holoprosencephaly; Holoprosencephaly 3				7550324		False	1	0;0;100	1.2	False		ENSG00000164690	ENSG00000164690	HGNC:10848													
T	gene	T	Radboud University Medical Center, Nijmegen	Currarino triad			BIALLELIC, autosomal or pseudoautosomal	Sacral agenesis with vertebral anomalies,615709				24253444		False	1	0;0;100	1.2	False		ENSG00000164458	ENSG00000164458	HGNC:11515													
VANGL1	gene	VANGL1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen	Currarino triad			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SACRAL DEFECT WITH ANTERIOR MENINGOCELE; Caudal regression syndrome; SDAM; sacral agenesis;Caudal regression syndrome,600145;Caudal Dysgenesis Syndrome						False	1	0;0;100	1.2	False		ENSG00000173218	ENSG00000173218	HGNC:15512													
VANGL2	gene	VANGL2	Other	Currarino triad			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neural tube defects; Sacral agenesis						False	1	0;0;100	1.2	False		ENSG00000162738	ENSG00000162738	HGNC:15511													
ZIC3	gene	ZIC3	Other	Currarino triad			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Heterotaxy, visceral, 1, X-linked; Sacral agenesis; Rectal stenosis						False	1	0;0;100	1.2	False		ENSG00000156925	ENSG00000156925	HGNC:12874