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 ADAM17 gene ADAM17 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ?Inflammatory skin and bowel disease, neonatal, 1, OMIM:614328 False 3 0;0;0 3.11 False ENSG00000151694 ENSG00000151694 HGNC:195 ADAMTS3 gene ADAMTS3 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154 False 3 0;0;0 3.11 False ENSG00000156140 ENSG00000156140 HGNC:219 AGR2 gene AGR2 Expert Review Green;Literature;NHS GMS Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis-like syndrome;chronic diarrhoea 34952832 False 3 100;0;0 3.11 False ENSG00000106541 ENSG00000106541 HGNC:328 ANGPTL3 gene ANGPTL3 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hypobetalipoproteinemia, familial, 2, OMIM:605019 False 3 0;0;0 3.11 False ENSG00000132855 ENSG00000132855 HGNC:491 AP1S1 gene AP1S1 Expert Review Green;Literature Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Non-syndromic congenital intestinal failure;MEDNIK syndrome, OMIM:609313 32306098;15668823;19057675;23423674;30244301 False 3 0;100;0 3.11 False ENSG00000106367 ENSG00000106367 HGNC:559 APOB gene APOB Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hypobetalipoproteinemia, OMIM:615558 False 3 0;0;0 3.11 False ENSG00000084674 ENSG00000084674 HGNC:603 ARX gene ARX Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Lissencephaly, X-linked 2, OMIM:300215 False 3 0;0;0 3.11 False ENSG00000004848 ENSG00000004848 HGNC:18060 CCBE1 gene CCBE1 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 False 3 0;0;0 3.11 False ENSG00000183287 ENSG00000183287 HGNC:29426 CD55 gene CD55 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, OMIM:226300 False 3 0;0;0 3.11 False ENSG00000196352 ENSG00000196352 HGNC:2665 CLMP gene CLMP Expert Review Green;Literature Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Congenital short bowel syndrome, OMIM:615237 27352967;22155368;33384711;31061750;27720179 False 3 100;0;0 3.11 False ENSG00000166250 ENSG00000166250 HGNC:24039 CTLA4 gene CTLA4 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation, OMIM:616100;{Celiac disease, susceptibility to, 3}, OMIM:609755 False 3 0;0;0 3.11 False ENSG00000163599 ENSG00000163599 HGNC:2505 DGAT1 gene DGAT1 Expert Review Green;NHS GMS Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Congenital diarrheal disorder;?Diarrhea 7, protein-losing enteropathy type, OMIM:615863 23114594;26883093;28937539;28373485 False 3 100;0;0 3.11 True ENSG00000185000 ENSG00000185000 HGNC:2843 EGFR gene EGFR Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069 26436111;29899996;24691054 False 3 0;0;0 3.11 False ENSG00000146648 ENSG00000146648 HGNC:3236 EPCAM gene EPCAM Expert Review Green;NHS GMS;Other Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217 18572020;21315192;27302973 False 3 100;0;0 3.11 True ENSG00000119888 ENSG00000119888 HGNC:11529 FAT4 gene FAT4 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2, OMIM:616006 False 3 0;0;0 3.11 False ENSG00000196159 ENSG00000196159 HGNC:23109 FLNA gene FLNA Expert Review Green;Literature Intestinal failure or congenital diarrhoea Gastrohepatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital short bowel syndrome, OMIM:300048;Intestinal pseudoobstruction, neuronal, OMIM:300048;?FG syndrome 2, OMIM:300321 23037936;23873601;33464596 False 3 100;0;0 3.11 False ENSG00000196924 ENSG00000196924 HGNC:3754 FOXP3 gene FOXP3 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 False 3 0;0;0 3.11 False ENSG00000049768 ENSG00000049768 HGNC:6106 GUCY2C gene GUCY2C Expert Review Green;NHS GMS;Other Intestinal failure or congenital diarrhoea Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Diarrhea 6, OMIM:614616 22521417;22436048;25994218 False 3 100;0;0 3.11 True 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 ICOS gene ICOS Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 1, OMIM:607594 False 3 0;0;0 3.11 False ENSG00000163600 ENSG00000163600 HGNC:5351 KMT2D gene KMT2D Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1, OMIM:147920 False 3 0;0;0 3.11 False ENSG00000167548 ENSG00000167548 HGNC:7133 LCT gene LCT Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Lactase deficiency, congenital, OMIM:223000 False 3 0;0;0 3.11 False ENSG00000115850 ENSG00000115850 HGNC:6530 LRBA gene LRBA Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700 False 3 0;0;0 3.11 False ENSG00000198589 ENSG00000198589 HGNC:1742 MTTP gene MTTP Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, OMIM:200100 False 3 0;0;0 3.11 False ENSG00000138823 ENSG00000138823 HGNC:7467 MYO5B gene MYO5B Expert Review Green;NHS GMS Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 24014347;29266534 False 3 100;0;0 3.11 True ENSG00000167306 ENSG00000167306 HGNC:7603 NEUROG3 gene NEUROG3 Expert Review;Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhoea 4, malabsorptive, congenital, OMIM:610370 16855267;32574610;28724572;21490072 False 3 100;0;0 3.11 False ENSG00000122859 ENSG00000122859 HGNC:13806 PCSK1 gene PCSK1 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing, OMIM:600955;obesity due to prohormone convertase I deficiency, MONDO:0010961;{Obesity, susceptibility to, BMIQ12},OMIM:612362 30383237 False 3 0;0;0 3.11 False ENSG00000175426 ENSG00000175426 HGNC:8743 PLVAP gene PLVAP Expert Review;Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 29875123;29661969;26207260;31215290 False 3 100;0;0 3.11 False ENSG00000130300 ENSG00000130300 HGNC:13635 RFX6 gene RFX6 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, OMIM:615710 False 3 0;0;0 3.11 False ENSG00000185002 ENSG00000185002 HGNC:21478 SAR1B gene SAR1B Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, OMIM:246700 False 3 0;0;0 3.11 False ENSG00000152700 ENSG00000152700 HGNC:10535 SI gene SI Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Sucrase-isomaltase deficiency, congenital, OMIM:222900 False 3 0;0;0 3.11 False ENSG00000090402 ENSG00000090402 HGNC:10856 SKIV2L gene SKIV2L Expert Review Green;NHS GMS;Other Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, OMIM:614602 22444670;27302973;27537055 False 3 100;0;0 3.11 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC10A2 gene SLC10A2 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal ?Bile acid malabsorption, primary, 1, OMIM:613291 False 3 0;0;0 3.11 False ENSG00000125255 ENSG00000125255 HGNC:10906 SLC26A3 gene SLC26A3 Expert Review Green;NHS GMS Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhea 1, secretory chloride, congenital, OMIM:214700 25711268;25568271;26157392;27525615;26637435;27784486;28258656;28644346;30635044 False 3 100;0;0 3.11 False ENSG00000091138 ENSG00000091138 HGNC:3018 SLC39A4 gene SLC39A4 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, OMIM:201100 False 3 0;0;0 3.11 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC5A1 gene SLC5A1 Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption, OMIM:606824 False 3 0;0;0 3.11 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC9A3 gene SLC9A3 Expert Review Green;NHS GMS Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhea 8, secretory sodium, congenital, OMM:616868 26358773 False 3 100;0;0 3.11 False ENSG00000066230 ENSG00000066230 HGNC:11073 SPINT2 gene SPINT2 Expert Review Green;NHS GMS Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420 19185281;24142340 False 3 100;0;0 3.11 False ENSG00000167642 ENSG00000167642 HGNC:11247 STX3 gene STX3 Expert Review Green;NHS GMS Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhea 12, with microvillus atrophy, OMIM:619445;Retinal dystrophy and microvillus inclusion disease, OMIM:619446 24726755;29266534;25358429;29282386;33974130 False 3 100;0;0 3.11 True ENSG00000166900 ENSG00000166900 HGNC:11438 STXBP2 gene STXBP2 Expert Review Green;NHS GMS;Other Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101 20798128;19804848 False 3 100;0;0 3.11 True ENSG00000076944 ENSG00000076944 HGNC:11445 TERT gene TERT Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 False 3 0;0;0 3.11 False ENSG00000164362 ENSG00000164362 HGNC:11730 TMPRSS15 gene TMPRSS15 Expert Review;Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Enterokinase deficiency, OMIM:226200 11719902;33061943 False 3 100;0;0 3.11 False ENSG00000154646 ENSG00000154646 HGNC:9490 TTC37 gene TTC37 Expert Review Green;NHS GMS;Other Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, OMM:222470 27302973;20176027 False 3 100;0;0 3.11 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150 False 3 0;0;0 3.11 False ENSG00000068724 ENSG00000068724 HGNC:19750 WNT2B gene WNT2B Expert Review;Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Diarrhoea 9, OMIM:618168 29909964;33526876 False 3 100;0;0 3.11 False ENSG00000134245 ENSG00000134245 HGNC:12781 XIAP gene XIAP Expert Review Green Intestinal failure or congenital diarrhoea Gastrohepatology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 2, OMIM:300635 False 3 0;0;0 3.11 False ENSG00000101966 ENSG00000101966 HGNC:592 ANO1 gene ANO1 Expert Review Amber;Literature Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Impaired intestinal peristalsis;Haemorrhagic diarrhoea;Dysmorphic features 32487539 False 2 0;100;0 3.11 False ENSG00000131620 ENSG00000131620 HGNC:21625 AP1B1 gene AP1B1 Expert Review Amber;Literature Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781 32969855;31630791 False 2 0;100;0 3.11 False ENSG00000100280 ENSG00000100280 HGNC:554 PSMB10 gene PSMB10 Expert Review Amber;Literature Intestinal failure or congenital diarrhoea Gastrohepatology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 121 with autoinflammation, OMIM:620807 31783057;36250618;37600812;38503300;39734035 False 2 100;0;0 3.11 False ENSG00000205220 ENSG00000205220 HGNC:9538 IL37 gene IL37 Literature Intestinal failure or congenital diarrhoea Gastrohepatology BIALLELIC, autosomal or pseudoautosomal Infantile inflammatory bowel disease 33674380 False 1 0;0;100 3.11 False ENSG00000125571 ENSG00000125571 HGNC:15563