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 ADA gene ADA Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Severe combined immunodeficiency due to ADA deficiency (SCID) 102700" False 3 100;0;0 1.45 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAM17 gene ADAM17 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal ADAM-17 deficiency;?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328 22010916;22236242;27077118;21041656;20603312;19299578;25804906 False 3 67;0;33 1.45 False ENSG00000151694 ENSG00000151694 HGNC:195 AICDA gene AICDA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2, OMIM:605258 False 3 100;0;0 1.45 False ENSG00000111732 ENSG00000111732 HGNC:13203 BACH2 gene BACH2 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 60, OMIM:618394;inflammatory bowel disease;recurrent sinopulmonary infections 28530713 False 3 100;0;0 1.45 False ENSG00000112182 ENSG00000112182 HGNC:14078 BTK gene BTK Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) "Agammaglobulinemia and isolated hormone deficiency 307200; Agammaglobulinemia, X-linked 1 300755" False 3 100;0;0 1.45 False ENSG00000010671 ENSG00000010671 HGNC:1133 CD3G gene CD3G Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 17, CD3 gamma deficient 615607" 17277165;1635567;24910257 False 3 50;0;50 1.45 False ENSG00000160654 ENSG00000160654 HGNC:1675 CD40LG gene CD40LG Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency, X-linked, with hyper-IgM 308230" False 3 100;0;0 1.45 False ENSG00000102245 ENSG00000102245 HGNC:11935 CTLA4 gene CTLA4 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CTLA4 deficiency 25367873 - a family with Crohn's disease (CD) and severe autoimmunity;25329329 - family and further cases reported with hypogammaglobulinemia, recurrent infections and multiple autoimmune clinical features;25213377 False 3 100;0;0 1.45 False ENSG00000163599 ENSG00000163599 HGNC:2505 CYBA gene CYBA Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Chronic granulomatous disease, autosomal, due to deficiency of CYBA 233690" 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease. False 3 100;0;0 1.45 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) Chronic granulomatous disease, X-linked 306400 False 3 100;0;0 1.45 False ENSG00000165168 ENSG00000165168 HGNC:2578 DCLRE1C gene DCLRE1C Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Omenn syndrome 603554; Severe combined immunodeficiency, Athabascan type 602450 False 3 100;0;0 1.45 False ENSG00000152457 ENSG00000152457 HGNC:17642 DOCK8 gene DOCK8 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 26659092;19776401;26235511 False 3 100;0;0 1.45 False ENSG00000107099 ENSG00000107099 HGNC:19191 EPCAM gene EPCAM Expert Review Green;Literature;Radboud University Medical Center, Nijmegen Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217 27302973; 18572020; 21315192 False 3 100;0;0 1.45 False ENSG00000119888 ENSG00000119888 HGNC:11529 FERMT1 gene FERMT1 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Kindler syndrome 27537055 - pathogenic variant (heterozygous) in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease. False 3 50;0;50 1.45 False ENSG00000101311 ENSG00000101311 HGNC:15889 FOXP3 gene FOXP3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790 27302973 False 3 100;0;0 1.45 False ENSG00000049768 ENSG00000049768 HGNC:6106 G6PC3 gene G6PC3 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Dursun syndrome OMIM:612541;Neutropenia, severe congenital 4, autosomal recessive OMIM:612541;autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930 False 3 100;0;0 1.45 False ENSG00000141349 ENSG00000141349 HGNC:24861 GUCY2C gene GUCY2C Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Familial Diarrhea 6 614616" 22521417; 22436048; 25994218 False 3 100;0;0 1.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000070019 ENSG00000070019 HGNC:4688 HPS1 gene HPS1 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 203300 False 3 100;0;0 1.45 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4 614073 False 3 100;0;0 1.45 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6 614075 False 3 100;0;0 1.45 False ENSG00000166189 ENSG00000166189 HGNC:18817 ICOS gene ICOS Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 1 607594" 26399252; 19380800; 25678089; 12577056 False 3 100;0;0 1.45 False ENSG00000163600 ENSG00000163600 HGNC:5351 IKBKG gene IKBKG Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 False 3 100;0;0 1.45 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL10RA gene IL10RA Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "IL-10 signalling defects / deficiency; Inflammatory bowel disease 28, early onset, autosomal recessive 613148" 27302973 False 3 100;0;0 1.45 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal IL-10 signalling defects / deficiency;Inflammatory bowel disease 25, early onset, autosomal recessive 612567 27302973; 21519361; 19890111 False 3 100;0;0 1.45 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL2RA gene IL2RA Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 41 with lymphoproliferation and autoimmunity (IPEX-like) 606367 23416241;24116927;17196245 False 3 100;0;0 1.45 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RG gene IL2RG Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) Severe combined immunodeficiency, X-linked 300400 False 3 100;0;0 1.45 False ENSG00000147168 ENSG00000147168 HGNC:6010 ITGB2 gene ITGB2 Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency 116920 False 3 100;0;0 1.45 False ENSG00000160255 ENSG00000160255 HGNC:6155 LIG4 gene LIG4 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, OMIM:606593 27537055 - pathogenic variant in this gene reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease. False 3 100;0;0 1.45 False ENSG00000174405 ENSG00000174405 HGNC:6601 LRBA gene LRBA Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700 27302973 False 3 100;0;0 1.45 False ENSG00000198589 ENSG00000198589 HGNC:1742 MEFV gene MEFV Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100 False 3 100;0;0 1.45 False ENSG00000103313 ENSG00000103313 HGNC:6998 MVK gene MVK Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377 False 3 100;0;0 1.45 False ENSG00000110921 ENSG00000110921 HGNC:7530 NCF1 gene NCF1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Chronic granulomatous disease due to deficiency of NCF-1 233700" 16972229;11133775 False 3 100;0;0 1.45 False ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Chronic granulomatous disease due to deficiency of NCF-2 233710" False 3 100;0;0 1.45 False ENSG00000116701 ENSG00000116701 HGNC:7661 OTULIN gene OTULIN Expert Review Green;Literature Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 27523608;27559085 False 3 100;0;0 1.45 False ENSG00000154124 ENSG00000154124 HGNC:25118 PIK3CD gene PIK3CD Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 14A, autosomal dominant, OMIM:615513 16984281; 24136356; 24165795 False 3 100;0;0 1.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171608 ENSG00000171608 HGNC:8977 RAG1 gene RAG1 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, B cell-negative;Omenn syndrome;Combined cellular and humoral immune defects with granulomas;Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity False 3 100;0;0 1.45 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal SCID/Hyper-IgM; Severe combined immunodeficiency, B cell-negative 601457; Omenn syndrome 603554 False 3 100;0;0 1.45 False ENSG00000175097 ENSG00000175097 HGNC:9832 RTEL1 gene RTEL1 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hoyeraal Hreidarsson Syndrome;Dyskeratosis congenita, autosomal dominant 4;Dyskeratosis congenita, autosomal recessive 5 False 3 100;0;0 1.45 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert Review Green;Literature Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome 617053 27182967 False 3 100;0;0 1.45 True Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SH2D1A gene SH2D1A Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) "Lymphoproliferative syndrome, X-linked, 1 308240" False 3 100;0;0 1.45 False ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2 614602 27302973;22444670;27537055 - a pathogenic variant (heterozygous state) in this gene was reported in a patient using whole exome sequencing screening in 147 pediatric patients with monogenic Inflammatory Bowel Disease. False 3 100;0;0 1.45 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC37A4 gene SLC37A4 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240 False 3 100;0;0 1.45 False ENSG00000137700 ENSG00000137700 HGNC:4061 STAT1 gene STAT1 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal IPEX-like;Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892;Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796;Immunodeficiency 31C, autosomal dominant 614162 28258222 False 3 100;0;0 1.45 False Other - please provide details in the comments ENSG00000115415 ENSG00000115415 HGNC:11362 STAT3 gene STAT3 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmune disease, multisystem, infantile-onset, 1 False 3 100;0;0 1.45 False Other - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 STXBP2 gene STXBP2 Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal " Hemophagocytic lymphohistiocytosis, familial, 5 613101" 19804848;20798128 False 3 100;0;0 1.45 False ENSG00000076944 ENSG00000076944 HGNC:11445 TGFBR1 gene TGFBR1 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz-Syndrome False 3 100;0;0 1.45 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Green Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz-Syndrome;Loeys-Dietz syndrome 2 False 3 50;0;50 1.45 False ENSG00000163513 ENSG00000163513 HGNC:11773 TTC37 gene TTC37 Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1 222470 27302973; 20176027 False 3 100;0;0 1.45 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal TTC7A deficiency;Epithelial Barrier Dysfunction;Gastrointestinal defects and immunodeficiency syndrome 243150 24417819;27302973 False 3 100;0;0 1.45 False ENSG00000068724 ENSG00000068724 HGNC:19750 WAS gene WAS Emory Genetics Laboratory;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) Wiskott-Aldrich syndrome 301000 False 3 100;0;0 1.45 False ENSG00000015285 ENSG00000015285 HGNC:12731 XIAP gene XIAP Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease 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) Lymphoproliferative syndrome, X-linked, 2 300635 21173700;17080092;27537055;32686289;25943627;24942515;29501442 False 3 100;0;0 1.45 False ENSG00000101966 ENSG00000101966 HGNC:592 ANO1 gene ANO1 Expert Review Amber;Literature Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Impaired intestinal peristalsis;Haemorrhagic diarrhoea;Dysmorphic features 32487539 False 2 0;100;0 1.45 False ENSG00000131620 ENSG00000131620 HGNC:21625 COL7A1 gene COL7A1 Expert list;Expert Review Amber Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Dystrophic epidermolysis bullosa 27537055;11781296;32084423 False 2 50;0;50 1.45 False ENSG00000114270 ENSG00000114270 HGNC:2214 DKC1 gene DKC1 Expert list;Expert Review Amber Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hoyeraal Hreidarsson Syndrome;Dyskeratosis congenita, X-linked False 2 100;0;0 1.45 False ENSG00000130826 ENSG00000130826 HGNC:2890 IL10 gene IL10 Eligibility statement prior genetic testing;Expert list;Expert Review Amber;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal IL-10 signalling defects / deficiency; IL10-Related Inflammatory Bowel Disease 27302973 False 2 100;0;0 1.45 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL21 gene IL21 Expert list;Expert Review Amber Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal IL21 deficiency (Combined variable immunodeficiency-like);severe diarrhea and inflammatory bowel disease;Early-onset inflammatory bowel disease "24746753 - family report;26681227 - evidence in rats with inflammatory bowel disease of the role of IL21;26648777 - elevated IL21 expression in CD3+ CD8+ T cells from patients with Ulcerative colitis compared to controls;25371082 - IL 21KO mice were largely protected against colitis;PMID: 25162763 ""IL-21 is overproduced in many chronic inflammatory disorders, including inflammatory bowel diseases, psoriasis, rheumatoid arthritis, type I diabetes and systemic lupus erythematosus, and studies in experimental models indicate that IL-21 plays an important role in sustaining tissue-damaging immune responses in such pathologies. However, genetic deficiency of IL-21 associates with inflammatory bowel diseases and blockade of IL-21 in the early phases exacerbates the disease progression in some models of rheumatoid arthritis and systemic lupus erythematosus, thus suggesting a dual role of IL-21 in the control of immune-mediated diseases."";PMID: 25037274;PMID: 24796415" False 2 100;0;0 1.45 False ENSG00000138684 ENSG00000138684 HGNC:6005 NPC1 gene NPC1 Expert list;Expert Review Amber Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Niemann_Pick type C disease;Niemann-Pick disease, type D False 2 100;0;0 1.45 False ENSG00000141458 ENSG00000141458 HGNC:7897 PI4KA gene PI4KA Expert Review Amber Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 25855803;34415322;34415310 False 2 0;100;0 1.45 False ENSG00000241973 ENSG00000241973 HGNC:8983 PIK3R1 gene PIK3R1 Expert list;Expert Review Amber Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Agammaglobulinemia 7, autosomal recessive 615214 22351933 False 2 50;0;50 1.45 False ENSG00000145675 ENSG00000145675 HGNC:8979 PLCG2 gene PLCG2 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 23000145;22236196 False 2 50;0;50 1.45 False ENSG00000197943 ENSG00000197943 HGNC:9066 PTEN gene PTEN Emory Genetics Laboratory;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "PTEN hamartoma tumor syndrome;Bannayan-Riley-Ruvalcaba syndrome 153480" 23962154;24882466;25352295;22266152 False 2 33;67;0 1.45 False ENSG00000171862 ENSG00000171862 HGNC:9588 ZAP70 gene ZAP70 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Infantile enterocolitis & monogenic inflammatory bowel disease Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "SCID;Autoimmune disease, multisystem, infantile-onset, 2 617006" 26783323;23406209 (association with Crohn's disease in adults);evidence for a role in autoimmune disease if ZAP70 is disregulated 27571017 and 26903241;PMID: 27288531 hypomorphic mutant allele of ZAP70 in SKG mouse model, which, upon exposure to fungal Ags, predisposes the mice to a CD4(+) T cell-mediated autoimmune arthritis that closely resembles rheumatoid arthritis in humans False 2 50;0;50 1.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115085 ENSG00000115085 HGNC:12858