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 CELSR3 gene CELSR3 Expert Review Amber;Literature Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hirschsprung disease 27619161 False 2 0;0;100 1.11 False ENSG00000008300 ENSG00000008300 HGNC:3230 DENND3 gene DENND3 Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease 28274275 False 2 0;100;0 1.11 False ENSG00000105339 ENSG00000105339 HGNC:29134 DHCR7 gene DHCR7 Expert Review Amber;Other Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome (MIM:270400) and Hirschsprung disease 3812577;6886911;14556255 False 2 0;100;0 1.11 False ENSG00000172893 ENSG00000172893 HGNC:2860 ECE1 gene ECE1 Alder Hey - Erasmus MC;Expert Review Amber;Radboud University Medical Center, Nijmegen Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 28543993;27370713;9915973 False 2 0;100;0 1.11 False ENSG00000117298 ENSG00000117298 HGNC:3146 GDNF gene GDNF Alder Hey - Erasmus MC;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease 3, 613711;{Hirschsprung disease, susceptibility to, 3}, 613711;Hirschsprung Disease, Dominant;short-segment HSCR;long-segment HSCR 28543993;27370713;8896568;8896569;8968758 False 2 100;0;0 1.11 False ENSG00000168621 ENSG00000168621 HGNC:4232 GFRA1 gene GFRA1 Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Hirschsprung disease 28543993;27370713;9545641;17507417;12624147 False 2 100;0;0 1.11 False ENSG00000151892 ENSG00000151892 HGNC:4243 NCLN gene NCLN Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease 28274275 False 2 0;100;0 1.11 False ENSG00000125912 ENSG00000125912 HGNC:26923 NKX2-1 gene NKX2-1 Expert Review Amber;Other Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hirschsprung disease;short-segment aganglionosis 15548547; 17640327 False 2 0;0;100 1.11 False ENSG00000136352 ENSG00000136352 HGNC:11825 NRG1 gene NRG1 Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease 28543993;22574178;21706185;28256518;25475805;22377709 False 2 50;50;0 1.11 False ENSG00000157168 ENSG00000157168 HGNC:7997 NRG3 gene NRG3 Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Hirschsprung disease 27889765;22589734;23315268 False 2 0;0;100 1.11 False ENSG00000185737 ENSG00000185737 HGNC:7999 NUP98 gene NUP98 Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease 28274275 False 2 0;100;0 1.11 False ENSG00000110713 ENSG00000110713 HGNC:8068 SEMA3C gene SEMA3C Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Hirschsprung disease 25839327 False 2 0;100;0 1.11 False ENSG00000075223 ENSG00000075223 HGNC:10725 SEMA3D gene SEMA3D Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted susceptibility to Hirschsprung disease 23372769;25839327 False 2 0;100;0 1.11 False ENSG00000153993 ENSG00000153993 HGNC:10726 TBATA gene TBATA Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease 28274275 False 2 0;100;0 1.11 False ENSG00000166220 ENSG00000166220 HGNC:23511 VCL gene VCL Alder Hey - Erasmus MC;Expert Review Amber Familial Hirschsprung Disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease;short-segment Hirschsprung disease (S-HSCR) 28342760 False 2 0;100;0 1.11 False ENSG00000035403 ENSG00000035403 HGNC:12665