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 ECE1 gene ECE1 Expert list;Expert Review Amber Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870 9915973;9449665;17131407 False 2 0;100;0 2.5 False ENSG00000117298 ENSG00000117298 HGNC:3146 GFRA1 gene GFRA1 Expert list;Expert Review Amber Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to Hirschsprung disease, MONDO:0100179 28543993;27370713;9545641;17507417;12624147 False 2 0;100;0 2.5 False ENSG00000151892 ENSG00000151892 HGNC:4243 KIF26A gene KIF26A Expert list;Expert Review Amber Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156;cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332 19914172;30663199;33542431;36228617;36564622;39305096 False 2 67;0;33 2.5 False ENSG00000066735 ENSG00000066735 HGNC:20226 RAD21 gene RAD21 Expert list;Expert Review Amber Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mungan syndrome, OMIM:611376 14638363;21832993;25575569;31848803;32687945 False 2 0;100;0 2.5 False ENSG00000164754 ENSG00000164754 HGNC:9811 BCR gene BCR Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paediatric intestinal pseudo-obstruction 34190380 False 1 0;0;100 2.5 False ENSG00000186716 ENSG00000186716 HGNC:1014 BCS1L gene BCS1L Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 1, OMIM:124000 False 1 0;0;100 2.5 False ENSG00000074582 ENSG00000074582 HGNC:1020 C17orf107 gene C17orf107 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809;Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 30663199 False 1 0;0;100 2.5 False ENSG00000205710 ENSG00000205710 HGNC:37238 CHRNE gene CHRNE Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809;Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931 30663199 False 1 0;0;100 2.5 False ENSG00000108556 ENSG00000108556 HGNC:1966 COX10 gene COX10 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 1 0;0;100 2.5 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 1 0;0;100 2.5 False ENSG00000014919 ENSG00000014919 HGNC:2263 DDX3X gene DDX3X Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 32896648 False 1 0;0;100 2.5 False ENSG00000215301 ENSG00000215301 HGNC:2745 DGUOK gene DGUOK Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), OMIM:251880 23385875 False 1 0;0;100 2.5 False ENSG00000114956 ENSG00000114956 HGNC:2858 DLX1 gene DLX1 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Abnormal bowel motility in mice 32017713 False 1 0;0;100 2.5 False ENSG00000144355 ENSG00000144355 HGNC:2914 DLX2 gene DLX2 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Abnormal bowel motility in mice 32017713 False 1 0;0;100 2.5 False ENSG00000115844 ENSG00000115844 HGNC:2915 ERBB2 gene ERBB2 Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Visceral neuropathy, familial, 2, autosomal recessive, OMIM:619465 33497358;33720042 False 1 0;0;100 2.5 False ENSG00000141736 ENSG00000141736 HGNC:3430 FOCAD gene FOCAD Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chronic intestinal pseudoobstruction, MONDO:0017574 31814461 False 1 0;0;100 2.5 False ENSG00000188352 ENSG00000188352 HGNC:23377 GDNF gene GDNF Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Hirschsprung disease, susceptibility to, 3}, OMIM:613711 False 1 0;0;100 2.5 False ENSG00000168621 ENSG00000168621 HGNC:4232 NDUFS1 gene NDUFS1 Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 1 0;0;100 2.5 False ENSG00000023228 ENSG00000023228 HGNC:7707 NKX2-1 gene NKX2-1 Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megacolon, oesophageal atresia 30663199 False 1 0;0;100 2.5 False ENSG00000136352 ENSG00000136352 HGNC:11825 NRTN gene NRTN Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to Hirschsprung disease 28543993;9700200;21206993 False 1 0;0;100 2.5 False ENSG00000171119 ENSG00000171119 HGNC:8007 PDCL3 gene PDCL3 Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome, MONDO:0025986 32621347 False 1 0;0;100 2.5 False ENSG00000115539 ENSG00000115539 HGNC:28860 RRM2B gene RRM2B Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075 19667227;23385875;24741716 False 1 0;0;100 2.5 False ENSG00000048392 ENSG00000048392 HGNC:17296 SCN10A gene SCN10A Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colon sensory neurons activation False 1 0;0;100 2.5 False ENSG00000185313 ENSG00000185313 HGNC:10582 SDHA gene SDHA Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 False 1 0;0;100 2.5 False ENSG00000073578 ENSG00000073578 HGNC:10680 SEMA3F gene SEMA3F Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology Unknown megacolon, MONDO:0001273 30663199 False 1 0;0;100 2.5 False ENSG00000001617 ENSG00000001617 HGNC:10728 SUCLA2 gene SUCLA2 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 23385875 False 1 0;0;100 2.5 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), OMIM:245400 19526370;20453710;23385875;26028457;33230783;35762302 False 1 0;0;100 2.5 False ENSG00000163541 ENSG00000163541 HGNC:11449 SURF1 gene SURF1 Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110 False 1 0;0;100 2.5 False ENSG00000148290 ENSG00000148290 HGNC:11474 TK2 gene TK2 Expert list;Expert Review Red Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560 23385875 False 1 0;0;100 2.5 False ENSG00000166548 ENSG00000166548 HGNC:11831 TPM3 gene TPM3 Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megacolon False 1 0;0;100 2.5 False ENSG00000143549 ENSG00000143549 HGNC:12012 TWNK gene TWNK Expert list Paediatric pseudo-obstruction syndrome Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245;Perrault syndrome 5, OMIM:616138 23385875 False 1 0;0;100 2.5 False ENSG00000107815 ENSG00000107815 HGNC:1160