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
EDN3	gene	EDN3	Alder Hey - Erasmus MC;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	susceptibility to Hirschsprung disease 4, 613712;{Hirschsprung disease, susceptibility to, 4}, 613712;Waardenburg syndrome, type 4B, 613265;Hirschsprung Disease, Dominant;Waardenburg syndrome;WS4B;total colonic aganglionosis;short-segment Hirschsprung disease				28543993;27370713;8630502;8630503;20583152;19764030		False	3	100;0;0	1.11	False		ENSG00000124205	ENSG00000124205	HGNC:3178													
EDNRB	gene	EDNRB	Alder Hey - Erasmus MC;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Waardenburg syndrome, type 4A, OMIM:277580;{Hirschsprung disease, susceptibility to, 2}, OMIM:600155;?ABCD syndrome, OMIM:600501;Colonic aganglionosis;Shah-Waardenburg syndrome;Long-segment Hirschsprung's disease;Short-segment Hirschsprung's disease				28543993;27370713;16618617;20009762;10528251;26923755;25852447		False	3	100;0;0	1.11	False		ENSG00000136160	ENSG00000136160	HGNC:3180													
KIF1BP	gene	KIF1BP	Alder Hey - Erasmus MC;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	BIALLELIC, autosomal or pseudoautosomal	Goldberg-Shprintzen megacolon syndrome, 609460 (includes Hirschsprung disease);GOSHS				28277559;15883926		False	3	100;0;0	1.11	False		ENSG00000198954	ENSG00000198954	HGNC:23419													
L1CAM	gene	L1CAM	Alder Hey - Erasmus MC;Expert Review Green;Radboud University Medical Center, Nijmegen	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Hydrocephalus with Hirschsprung disease, 307000				28543993;20860806;22344793;11857550;15148591;19641926;9279760		False	3	100;0;0	1.11	False		ENSG00000198910	ENSG00000198910	HGNC:6470													
PHOX2B	gene	PHOX2B	Alder Hey - Erasmus MC;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880; Neuroblastoma with Hirschsprung disease, 613013;Congenital Central Hypoventilation Syndrome;Central Hypoventilation Syndrome, Congenital, 209880				28543993;27370713;28371199;24182656;28422456;15024693		False	3	100;0;0	1.11	False		ENSG00000109132	ENSG00000109132	HGNC:9143													
RET	gene	RET	Alder Hey - Erasmus MC;Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	susceptibility to Hirschsprung disease 1, 142623;{Hirschsprung disease, susceptibility to, 1}, 142623;Hirschsprung Disease, Susceptibility To, 1, 142623;Hirschsprung Disease, Dominant				28543993;28274275;7581377;27370713;23084198;8114938;8114939		False	3	100;0;0	1.11	False		ENSG00000165731	ENSG00000165731	HGNC:9967													
SOX10	gene	SOX10	Alder Hey - Erasmus MC;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Waardenburg syndrome with Hirschsprung disease (WS4C), 613266;PCWH syndrome, 609136 (includes Hirschsprung disease, long-segment);Waardenburg syndrome, type 4C, 613266;Waardenburg Syndrome; PCWH Syndrome				28543993;28544110;28390600		False	3	100;0;0	1.11	False		ENSG00000100146	ENSG00000100146	HGNC:11190													
ZEB2	gene	ZEB2	Alder Hey - Erasmus MC;Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN	Familial Hirschsprung Disease	Gastrointestinal disorders	Gastroenterological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Mowat-Wilson syndrome, 235730;Mowat-Wilson Syndrome, 235730;MWS;Hirschsprung disease;Mental retardation and distinct facial features, with or without Hirschsprung disease				11279515;28543993;27370713;21712996		False	3	100;0;0	1.11	False		ENSG00000169554	ENSG00000169554	HGNC:14881