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 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