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 ACTA2 gene ACTA2 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multisystemic smooth muscle dysfunction syndrome, OMIM:613834 20734336;29300374;33729000 False 3 100;0;0 2.5 False ENSG00000107796 ENSG00000107796 HGNC:130 ACTG2 gene ACTG2 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431;Visceral myopathy 1, OMIM:155310 24676022;24337657;33729000;31848803 False 3 100;0;0 2.5 False ENSG00000163017 ENSG00000163017 HGNC:145 EDN3 gene EDN3 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Waardenburg syndrome, type 4B, OMIM:613265;{Hirschsprung disease, susceptibility to, 4}, OMIM:613712 19764030;20583152;20009762;23840513 False 3 100;0;0 2.5 False ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology 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 28543993;27370713;16618617;20009762;10528251;26923755;25852447 False 3 100;0;0 2.5 False ENSG00000136160 ENSG00000136160 HGNC:3180 ERBB3 gene ERBB3 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Visceral neuropathy, familial, 1, autosomal recessive, OMIM:243180 33497358;33720042 False 3 100;0;0 2.5 False ENSG00000065361 ENSG00000065361 HGNC:3431 FLNA gene FLNA Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital short bowel syndrome, OMIM:300048;Intestinal pseudoobstruction, neuronal, OMIM:300048 17357080;20871226;23873601;26059841;31848803;33729000;35981053 False 3 100;0;0 2.5 False ENSG00000196924 ENSG00000196924 HGNC:3754 L1CAM gene L1CAM Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, OMIM:307000 28543993;20860806;22344793;11857550;15148591;19641926;9279760 False 3 100;0;0 2.5 False ENSG00000198910 ENSG00000198910 HGNC:6470 LIG3 gene LIG3 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 33855352 False 3 100;0;0 2.5 False ENSG00000005156 ENSG00000005156 HGNC:6600 LMOD1 gene LMOD1 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, OMIM:619362 28292896;35170814 False 3 100;0;0 2.5 False ENSG00000163431 ENSG00000163431 HGNC:6647 MPV17 gene MPV17 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM:256810 23385875;29282788;35750291 False 3 100;0;0 2.5 False ENSG00000115204 ENSG00000115204 HGNC:7224 MYH11 gene MYH11 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351;Visceral myopathy 2, OMIM:619350 25407000;29575632;31044419;31389005;31427716;31848803;31944481;33729000 False 3 100;0;0 2.5 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYL9 gene MYL9 Expert list;Expert Review Green;NHS GMS Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365 27481187;31848803;33031641;33729000;29453416;32621347;33264186 False 3 100;0;0 2.5 False ENSG00000101335 ENSG00000101335 HGNC:15754 MYLK gene MYLK Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210 28602422;31848803;33729000 False 3 100;0;0 2.5 False ENSG00000065534 ENSG00000065534 HGNC:7590 PHOX2B gene PHOX2B Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880;central hypoventilation syndrome, congenital, MONDO:0800031;Neuroblastoma with Hirschsprung disease, OMIM:613013;neuroblastoma, susceptibility to, 2, MONDO:0700041 30672101;29543228;12438263;12640453 False 3 100;0;0 2.5 False ENSG00000109132 ENSG00000109132 HGNC:9143 POLG gene POLG Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 12825077;19307547;21993618;23385875;31848803 False 3 100;0;0 2.5 False ENSG00000140521 ENSG00000140521 HGNC:9179 PROK1 gene PROK1 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hirschsprung disease, MONDO:0018309 21858136 False 3 100;0;0 2.5 False ENSG00000143125 ENSG00000143125 HGNC:18454 PROKR1 gene PROKR1 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hirschsprung disease, MONDO:0018309 21858136 False 3 100;0;0 2.5 False ENSG00000169618 ENSG00000169618 HGNC:4524 PROKR2 gene PROKR2 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hirschsprung disease, MONDO:0018309 21858136 False 3 100;0;0 2.5 False ENSG00000101292 ENSG00000101292 HGNC:15836 RET gene RET Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Hirschsprung disease, susceptibility to, 1}, 142623;{Hirschsprung disease, protection against}, 142623 21960833;31848803;34092334;36521661 False 3 100;0;0 2.5 False ENSG00000165731 ENSG00000165731 HGNC:9967 SGO1 gene SGO1 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Chronic atrial and intestinal dysrhythmia, OMIM:616201 25282101;31848803 False 3 100;0;0 2.5 False ENSG00000129810 ENSG00000129810 HGNC:25088 SOX10 gene SOX10 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PCWH syndrome, OMIM:609136;Waardenburg syndrome, type 4C, OMIM:613266 12189494;29570554;31848803 False 3 100;0;0 2.5 False ENSG00000100146 ENSG00000100146 HGNC:11190 TTC7A gene TTC7A Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150 31787977;34975848;34985046;35627206 False 3 100;0;0 2.5 False ENSG00000068724 ENSG00000068724 HGNC:19750 TYMP gene TYMP Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041 31848803;32898308;33825174 False 3 100;0;0 2.5 False ENSG00000025708 ENSG00000025708 HGNC:3148 ZEB2 gene ZEB2 Expert list;Expert Review Green Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome, OMIM:235730 11279515 False 3 100;0;0 2.5 False ENSG00000169554 ENSG00000169554 HGNC:14881