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 CD40LG gene CD40LG Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Early Onset Inflammatory Bowel Disease;Immunodeficiency, X-linked, with hyper-IgM 308230 27189378 False 3 100;0;0 1.76 False ENSG00000102245 ENSG00000102245 HGNC:11935 CTLA4 gene CTLA4 Expert list;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CTLA4 deficiency False 3 100;0;0 1.76 False ENSG00000163599 ENSG00000163599 HGNC:2505 CYBA gene CYBA Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690 27537055 False 3 100;0;0 1.76 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier 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) Early Onset Inflammatory Bowel Disease;Chronic granulomatous disease, X-linked 306400 False 3 100;0;0 1.76 False ENSG00000165168 ENSG00000165168 HGNC:2578 DCLRE1C gene DCLRE1C Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Omenn syndrome 603554;Severe combined immunodeficiency, Athabascan type 602450 False 3 100;0;0 1.76 False ENSG00000152457 ENSG00000152457 HGNC:17642 DOCK8 gene DOCK8 Expert list;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory Bowel Disease (Very Early Onset) False 3 100;0;0 1.76 False ENSG00000107099 ENSG00000107099 HGNC:19191 EPCAM gene EPCAM Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217 24142340;20034091;19820410;18572020 False 3 100;0;0 1.76 False ENSG00000119888 ENSG00000119888 HGNC:11529 FOXP3 gene FOXP3 Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier 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) Early Onset Inflammatory Bowel Disease;Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790 27302973 False 3 100;0;0 1.76 False ENSG00000049768 ENSG00000049768 HGNC:6106 GUCY2C gene GUCY2C Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diarrhea 6, 614616 False 3 100;0;0 1.76 False ENSG00000070019 ENSG00000070019 HGNC:4688 HPS1 gene HPS1 Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Hermansky-Pudlak syndrome 1 203300 False 3 100;0;0 1.76 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Hermansky-Pudlak syndrome 4 614073 False 3 100;0;0 1.76 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Hermansky-Pudlak syndrome 6 614075 False 3 100;0;0 1.76 False ENSG00000166189 ENSG00000166189 HGNC:18817 ICOS gene ICOS Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Immunodeficiency, common variable, 1 607594 26399252; 19380800; 25678089; 12577056 False 3 100;0;0 1.76 False ENSG00000163600 ENSG00000163600 HGNC:5351 IL10 gene IL10 Expert Review Green;Other;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory Bowel Disease (Very Early Onset);Crohn disease False 3 100;0;0 1.76 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Inflammatory bowel disease 28, early onset, autosomal recessive, 613148;Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);IL-10 signalling defects / deficiency;Inflammatory bowel disease 28, early onset, autosomal recessive 613148;Ulcerative Colitis 27302973 False 3 100;0;0 1.76 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset, autosomal recessive, 612567;Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Inflammatory bowel disease 25, early onset, autosomal recessive;Ulcerative Colitis 19890111;21519361 False 3 100;0;0 1.76 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL2RA gene IL2RA Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367 23416241;24116927;17196245 False 3 100;0;0 1.76 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RG gene IL2RG Expert Review Green;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Inflammatory Bowel Disease (Very Early Onset) False 3 100;0;0 1.76 False ENSG00000147168 ENSG00000147168 HGNC:6010 MEFV gene MEFV Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100;Early Onset Inflammatory Bowel Disease 19309279;20890251;23898394 False 3 100;0;0 1.76 False ENSG00000103313 ENSG00000103313 HGNC:6998 MVK gene MVK Emory Genetics Laboratory;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377 False 3 100;0;0 1.76 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYO5B gene MYO5B Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 False 3 0;0;0 1.76 False ENSG00000167306 ENSG00000167306 HGNC:7603 NCF1 gene NCF1 Expert Review Green;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory Bowel Disease (Very Early Onset) False 3 100;0;0 1.76 False ENSG00000158517 ENSG00000158517 HGNC:7660 OTULIN gene OTULIN Expert list;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 False 3 100;0;0 1.76 False ENSG00000154124 ENSG00000154124 HGNC:25118 RAG1 gene RAG1 Expert list;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.76 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory Bowel Disease (Very Early Onset) False 3 100;0;0 1.76 False ENSG00000175097 ENSG00000175097 HGNC:9832 RTEL1 gene RTEL1 Expert list;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 100;0;0 1.76 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert list;Expert Review Green Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 1.76 False ENSG00000205413 ENSG00000205413 HGNC:1348 SH2D1A gene SH2D1A Emory Genetics Laboratory;Expert Review Green;UKGTN Gastrointestinal epithelial barrier 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) Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Lymphoproliferative syndrome, X-linked, 1 308240 False 3 100;0;0 1.76 False ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, 614602;Trichohepatoenteric Syndrome;Inflammatory Bowel Disease (Very Early Onset) False 3 100;0;0 1.76 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC37A4 gene SLC37A4 Emory Genetics Laboratory;Expert Review Green;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240;Early Onset Inflammatory Bowel Disease 25356975 False 3 100;0;0 1.76 False ENSG00000137700 ENSG00000137700 HGNC:4061 STAT3 gene STAT3 Expert list;Expert Review Green;Other Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Crohn disease False 3 100;0;0 1.76 False ENSG00000168610 ENSG00000168610 HGNC:11364 STXBP2 gene STXBP2 Emory Genetics Laboratory;Expert Review Green;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Hemophagocytic lymphohistiocytosis, familial, 5 613101 19804848;20798128 False 3 100;0;0 1.76 False ENSG00000076944 ENSG00000076944 HGNC:11445 TTC37 gene TTC37 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, 222470;Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Trichohepatoenteric syndrome 1 222470 27302973; 20176027 False 3 100;0;0 1.76 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150 False 3 100;0;0 1.76 False ENSG00000068724 ENSG00000068724 HGNC:19750 WAS gene WAS Emory Genetics Laboratory;Expert Review Green;UKGTN Gastrointestinal epithelial barrier 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) Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Wiskott-Aldrich syndrome 301000 False 3 100;0;0 1.76 False ENSG00000015285 ENSG00000015285 HGNC:12731 XIAP gene XIAP Emory Genetics Laboratory;Expert Review Green;UKGTN Gastrointestinal epithelial barrier 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) Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Lymphoproliferative syndrome, X-linked, 2 300635 21173700;17080092;27537055;32686289;25943627;24942515;29501442 False 3 100;0;0 1.76 False ENSG00000101966 ENSG00000101966 HGNC:592