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;Expert Review Green Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multisystemic smooth muscle dysfunction syndrome, OMIM:613834 20734336;29300374 False 3 100;0;0 1.30 False ENSG00000107796 ENSG00000107796 HGNC:130 ACTG2 gene ACTG2 Expert Review Green;Literature Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Visceral myopathy 155310 24676022; 24337657 False 3 100;0;0 1.30 False ENSG00000163017 ENSG00000163017 HGNC:145 ATRX gene ATRX Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alpha-thalassemia/mental retardation syndrome 301040 16688741 False 3 100;0;0 1.30 False ENSG00000085224 ENSG00000085224 HGNC:886 CLMP gene CLMP Expert Review Green;Literature Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital short bowel syndrome 615237 22155368 False 3 100;0;0 1.30 True ENSG00000166250 ENSG00000166250 HGNC:24039 DES gene DES Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 1 601419 False 3 100;0;0 1.30 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;Literature Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy 310200 3380114;26920808 - dystrophin deficient mice display GI disease symptoms;7999513 (article in Spanish) False 3 33;33;33 1.30 False ENSG00000198947 ENSG00000198947 HGNC:2928 FLNA gene FLNA Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital short bowel syndrome, OMIM:300048;Intestinal pseudoobstruction, neuronal, OMIM:300048 "17357080;23037936;26059841 - the two siblings who had atypical clinical courses, such as a lack of PVNH and a spontaneous improvement of CIPO. A 4-bp deletion in exon 40 was reported, and functional studies revealed that the variant induced in-frame skipping of the mutated exon, which led to the translation of a mutant FLNA missing an internal region of 41 amino acids. ""Functional analyses of the mutant protein suggested that its binding affinity to integrin, as well as its capacity to induce focal adhesions, were comparable to those of the wild-type protein. These results suggested that exon skipping of FLNA partially restored its protein function, which could contribute to amelioration of the siblings' clinical courses."";20871226;18854860" False 3 100;0;0 1.30 False ENSG00000196924 ENSG00000196924 HGNC:3754 IDS gene IDS Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mucopolysaccharidosis II 309900 False 3 100;0;0 1.30 False ENSG00000010404 ENSG00000010404 HGNC:5389 LIG3 gene LIG3 Expert Review Green;Literature Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal gut dysmotility;spasticity;ataxia;repetitive behaviours;neurogenic bladder;macular degeneration;leukoencephalopathy;cerebellar atrophy;mitochondrial DNA depletion 33855352 False 3 100;0;0 1.30 False ENSG00000005156 ENSG00000005156 HGNC:6600 MYH11 gene MYH11 Expert list;Expert Review Green Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708 31944481;29575632;31427716;25407000 False 3 100;0;0 1.30 False ENSG00000133392 ENSG00000133392 HGNC:7569 POLG gene POLG Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662 False 3 100;0;0 1.30 False ENSG00000140521 ENSG00000140521 HGNC:9179 RET gene RET Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hirschsprung disease, susceptibility to, 1} 142623 8114938;8114939;9090527;7581377;9700200;9760196;10090908;8001158;10090908;10922382;15829955;11953745 False 3 50;50;0 1.30 False ENSG00000165731 ENSG00000165731 HGNC:9967 RRM2B gene RRM2B Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) False 3 50;50;0 1.30 False ENSG00000048392 ENSG00000048392 HGNC:17296 SAMD9 gene SAMD9 Expert Review Green;Literature Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome 617053 27182967 False 3 100;0;0 1.30 True Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SCN11A gene SCN11A Expert Review Green;Radboud University Medical Center, Nijmegen Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type VII 615548 "27503742 25118027" False 3 0;100;0 1.30 False ENSG00000168356 ENSG00000168356 HGNC:10583 SOX10 gene SOX10 Expert Review Green;Radboud University Medical Center, Nijmegen Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome, type 4C 613266 False 3 100;0;0 1.30 False ENSG00000100146 ENSG00000100146 HGNC:11190 TMEM70 gene TMEM70 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052 False 3 50;50;0 1.30 False ENSG00000175606 ENSG00000175606 HGNC:26050 TYMP gene TYMP Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041 False 3 100;0;0 1.30 False ENSG00000025708 ENSG00000025708 HGNC:3148 GDNF gene GDNF Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders Unknown {Hirschsprung disease, susceptibility to, 3} 613711 12239580;23605783;8896569;8968758;11953745 False 2 50;50;0 1.30 False ENSG00000168621 ENSG00000168621 HGNC:4232 L1CAM gene L1CAM Expert Review Amber;Radboud University Medical Center, Nijmegen Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000 18854860;15368500 False 2 67;33;0 1.30 False ENSG00000198910 ENSG00000198910 HGNC:6470 PTEN gene PTEN Expert Review;Expert Review Amber Gastrointestinal neuromuscular disorders Gastrointestinal disorders Gastroenterological disorders Bannayan-Riley-Ruvalcaba syndrome 153480 21258937;19884655 False 2 0;100;0 1.30 False ENSG00000171862 ENSG00000171862 HGNC:9588