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 Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multisystemic smooth muscle dysfunction syndrome, MIM# 613834;Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis Gastrointestinal dysmotility;HP:0002579 20734336;29300374 False 3 100;0;0 1.24 True ENSG00000107796 ENSG00000107796 HGNC:130 ACTG2 gene ACTG2 Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Visceral myopathy, 155310;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 Gastrointestinal dysmotility;HP:0002579 24676022;26647307 False 3 100;0;0 1.24 True ENSG00000163017 ENSG00000163017 HGNC:145 ATRX gene ATRX Expert Review Green;NHS GMS Gastrointestinal neuromuscular disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ATR-X-related syndrome MONDO:0016980 Gastrointestinal dysmotility;HP:0002579 16688741 False 3 100;0;0 1.24 True ENSG00000085224 ENSG00000085224 HGNC:886 CHRM3 gene CHRM3 Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Prune belly syndrome, MIM# 100100;Posterior urethral valves & prune belly syndrome Gastrointestinal dysmotility;HP:0002579 22077972;31441039 False 3 100;0;0 1.24 True ENSG00000133019 ENSG00000133019 HGNC:1952 CLMP gene CLMP Expert list;Expert Review Green Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital short bowel syndrome , MIM#615237 Gastrointestinal dysmotility;HP:0002579 22155368 False 3 100;0;0 1.24 True ENSG00000166250 ENSG00000166250 HGNC:24039 DES gene DES Expert list;Expert Review Green Gastrointestinal neuromuscular disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Myopathy, myofibrillar, 1 , MIM#601419" Gastrointestinal dysmotility;HP:0002579 False 3 100;0;0 1.24 True ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert list;Expert Review Green Gastrointestinal neuromuscular disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Duchenne muscular dystrophy, MIM# 310200" Gastrointestinal dysmotility;HP:0002579 3380114 False 3 100;0;0 1.24 True ENSG00000198947 ENSG00000198947 HGNC:2928 EDN3 gene EDN3 Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4B, MIM# 613265 Gastrointestinal dysmotility;HP:0002579 False 3 100;0;0 1.24 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4A, MIM# 277580 Gastrointestinal dysmotility;HP:0002579 False 3 100;0;0 1.24 True ENSG00000136160 ENSG00000136160 HGNC:3180 ERBB3 gene ERBB3 Expert Review Green;Literature Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Visceral neuropathy, familial, 1, autosomal recessive, MIM# 243180;Complex neurocristinopathy Gastrointestinal dysmotility;HP:0002579 33497358 False 3 100;0;0 1.24 True ENSG00000065361 ENSG00000065361 HGNC:3431 FLNA gene FLNA Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intestinal pseudoobstruction, neuronal, MIM# 300048;Congenital short bowel syndrome, MIM# 300048 Gastrointestinal dysmotility;HP:0002579 17357080;23037936;33464596;20871226 False 3 100;0;0 1.24 True ENSG00000196924 ENSG00000196924 HGNC:3754 IDS gene IDS Expert list;Expert Review Green Gastrointestinal neuromuscular disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mucopolysaccharidosis II, MIM# 309900" Gastrointestinal dysmotility;HP:0002579 False 3 100;0;0 1.24 False ENSG00000010404 ENSG00000010404 HGNC:5389 L1CAM gene L1CAM Expert list;Expert Review Green Gastrointestinal neuromuscular disease Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000 Gastrointestinal dysmotility;HP:0002579 9279760;11857550;15148591;15368500;22354677 False 3 100;0;0 1.24 True ENSG00000198910 ENSG00000198910 HGNC:6470 LIG3 gene LIG3 Expert Review Green;Literature Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Gastrointestinal dysmotility;HP:0002579 33855352 False 3 100;0;0 1.24 True ENSG00000005156 ENSG00000005156 HGNC:6600 MPV17 gene MPV17 Expert list;Expert Review Green;Victorian Clinical Genetics Services Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MIM#256810 Gastrointestinal dysmotility;HP:0002579 22964873;28673863;22593919 False 3 100;0;0 1.24 True ENSG00000115204 ENSG00000115204 HGNC:7224 MYH11 gene MYH11 Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Visceral myopathy 2, MIM# 619350;Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, MIM# 619351;Dominant smooth muscle dysmotility syndrome" Gastrointestinal dysmotility;HP:0002579 31044419;31427716;25407000;31944481 False 3 100;0;0 1.24 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYL9 gene MYL9 Expert Review Green;Literature Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365 Gastrointestinal dysmotility;HP:0002579 29453416;33031641;32621347 False 3 50;0;50 1.24 True ENSG00000101335 ENSG00000101335 HGNC:15754 OPA3 gene OPA3 Expert Review Green;Literature Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 3 MONDO:0008133 Gastrointestinal dysmotility;HP:0002579 31119193 False 3 100;0;0 1.24 True Other ENSG00000125741 ENSG00000125741 HGNC:8142 POLG gene POLG Expert list;Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Gastrointestinal dysmotility;HP:0002579 22006280 False 3 100;0;0 1.24 True ENSG00000140521 ENSG00000140521 HGNC:9179 RAD21 gene RAD21 Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities Gastrointestinal dysmotility;HP:0002579 14638363;32193685;25575569 False 3 100;0;0 1.24 True ENSG00000164754 ENSG00000164754 HGNC:9811 RET gene RET Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, MIM# 209880;Multiple endocrine neoplasia IIA, MIM# 171400;Multiple endocrine neoplasia IIB, MIM# 162300 Gastrointestinal dysmotility;HP:0002579 False 3 100;0;0 1.24 True ENSG00000165731 ENSG00000165731 HGNC:9967 RRM2B gene RRM2B Expert list;Expert Review Green;Victorian Clinical Genetics Services Gastrointestinal neuromuscular disease Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077 Gastrointestinal dysmotility;HP:0002579 19667227;23107649 False 3 100;0;0 1.24 True ENSG00000048392 ENSG00000048392 HGNC:17296 SAMD9 gene SAMD9 Expert list;Expert Review Green Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIRAGE syndrome, MIM# 617053 Gastrointestinal dysmotility;HP:0002579 27182967 False 3 100;0;0 1.24 True ENSG00000205413 ENSG00000205413 HGNC:1348 SCN11A gene SCN11A Expert list;Expert Review Green Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548" Gastrointestinal dysmotility;HP:0002579 27503742;25118027 False 3 100;0;0 1.24 True ENSG00000168356 ENSG00000168356 HGNC:10583 SOX10 gene SOX10 Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PCWH syndrome, MIM# 609136 Gastrointestinal dysmotility;HP:0002579 10762540;10482261;15004559 False 3 100;0;0 1.24 True ENSG00000100146 ENSG00000100146 HGNC:11190 TYMP gene TYMP Expert list;Expert Review Green;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041;MNGIE: ptosis, ophthalmoplegia & ophthalmoparesis, hearing loss, neuropathy Gastrointestinal dysmotility;HP:0002579 9924029;14757860 False 3 100;0;0 1.24 True ENSG00000025708 ENSG00000025708 HGNC:3148 LMOD1 gene LMOD1 Expert Review Amber;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362 Gastrointestinal dysmotility;HP:0002579 28292896 False 2 0;100;0 1.24 True ENSG00000163431 ENSG00000163431 HGNC:6647 MYLK gene MYLK Expert Review Amber;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome, 249210 Gastrointestinal dysmotility;HP:0002579 28602422 False 2 0;100;0 1.24 True ENSG00000065534 ENSG00000065534 HGNC:7590 NRG1 gene NRG1 Expert list;Expert Review Amber Gastrointestinal neuromuscular disease Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease Gastrointestinal dysmotility;HP:0002579 22574178;21706185;28190554 False 2 0;100;0 1.24 True ENSG00000157168 ENSG00000157168 HGNC:7997 PDCL3 gene PDCL3 Expert Review Amber;Literature Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal megacystis-microcolon Gastrointestinal dysmotility;HP:0002579 PMID: 32621347 False 2 0;100;0 1.24 True ENSG00000115539 ENSG00000115539 HGNC:28860 SGO1 gene SGO1 Expert Review Amber;Royal Melbourne Hospital Gastrointestinal neuromuscular disease Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Chronic atrial and intestinal dysrhythmia, MIM# 616201 Gastrointestinal dysmotility;HP:0002579 25282101 False 2 0;100;0 1.24 True ENSG00000129810 ENSG00000129810 HGNC:25088