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 AGR2 gene AGR2 Expert Review Green;Literature Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233 34952832 False 3 100;0;0 1.13 True ENSG00000106541 ENSG00000106541 HGNC:328 AIRE gene AIRE Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 9398839;9837820;16965330 False 3 100;0;0 1.13 True ENSG00000160224 ENSG00000160224 HGNC:360 APOB gene APOB Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Hypobetalipoproteinemia, MIM# 615558 False 3 100;0;0 1.13 True ENSG00000084674 ENSG00000084674 HGNC:603 CFTR gene CFTR Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM# 219700 False 3 100;0;0 1.13 True ENSG00000001626 ENSG00000001626 HGNC:1884 DGAT1 gene DGAT1 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 7, protein-losing enteropathy type, MIM# 615863 33261563;32786057;31778854;28373485;29604290 False 3 100;0;0 1.13 True ENSG00000185000 ENSG00000185000 HGNC:2843 EPCAM gene EPCAM Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217 24142340 False 3 100;0;0 1.13 True ENSG00000119888 ENSG00000119888 HGNC:11529 FOXP3 gene FOXP3 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked , MIM#304790 False 3 100;0;0 1.13 True ENSG00000049768 ENSG00000049768 HGNC:6106 GUCY2C gene GUCY2C Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diarrhoea 6, MIM# 614616 22521417;22436048;25994218;30353760;28957388 False 3 100;0;0 1.13 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 LCT gene LCT Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Lactase deficiency, congenital, MIM# 223000 False 3 100;0;0 1.13 True ENSG00000115850 ENSG00000115850 HGNC:6530 MPI gene MPI Expert Review;Expert Review Green Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579;MPI-CDG MONDO:0011257 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 100;0;0 1.13 True ENSG00000178802 ENSG00000178802 HGNC:7216 MTTP gene MTTP Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, MIM# 200100 17275380 False 3 100;0;0 1.13 True ENSG00000138823 ENSG00000138823 HGNC:7467 MYO5B gene MYO5B Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Microvillus inclusion disease, MIM# 251850 30564347;29266534 False 3 100;0;0 1.13 True ENSG00000167306 ENSG00000167306 HGNC:7603 NEUROG3 gene NEUROG3 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 4, malabsorptive, congenital, MIM# 610370 16855267;32574610;28724572;21490072 False 3 100;0;0 1.13 True ENSG00000122859 ENSG00000122859 HGNC:13806 PCSK1 gene PCSK1 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing, MIM# 600955 14617756;17595246 False 3 100;0;0 1.13 True ENSG00000175426 ENSG00000175426 HGNC:8743 PLVAP gene PLVAP Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, MIM# 618183 29875123;29661969;26207260;31215290 False 3 100;0;0 1.13 True ENSG00000130300 ENSG00000130300 HGNC:13635 PRSS1 gene PRSS1 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatitis, hereditary, MIM# 167800 22379635 False 3 100;0;0 1.13 True ENSG00000204983 ENSG00000204983 HGNC:9475 SAR1B gene SAR1B Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, MIM# 246700 False 3 100;0;0 1.13 True ENSG00000152700 ENSG00000152700 HGNC:10535 SBDS gene SBDS Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 False 3 100;0;0 1.13 True ENSG00000126524 ENSG00000126524 HGNC:19440 SI gene SI Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Sucrase-isomaltase deficiency, congenital, MIM# 222900 16329100 False 3 100;0;0 1.13 True ENSG00000090402 ENSG00000090402 HGNC:10856 SKIV2L gene SKIV2L Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM# 614602 22444670;33114497;30397475;29527791;29484573 False 3 100;0;0 1.13 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC26A3 gene SLC26A3 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 1, secretory chloride, congenital, MIM# 214700 31325522;19861545;11524734 False 3 100;0;0 1.13 True ENSG00000091138 ENSG00000091138 HGNC:3018 SLC39A4 gene SLC39A4 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, MIM# 201100 19370757 False 3 100;0;0 1.13 True ENSG00000147804 ENSG00000147804 HGNC:17129 SLC5A1 gene SLC5A1 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption, MIM# 606824 20486940;32946683 False 3 100;0;0 1.13 True ENSG00000100170 ENSG00000100170 HGNC:11036 SLC7A7 gene SLC7A7 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700 10080182;18716612 False 3 100;0;0 1.13 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLC9A3 gene SLC9A3 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 8, secretory sodium, congenital 616868 30633106;31276831;26358773 False 3 100;0;0 1.13 True ENSG00000066230 ENSG00000066230 HGNC:11073 SPINT2 gene SPINT2 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 3, secretory sodium, congenital, syndromic 270420;MONDO:0010036 19185281;20009592;24142340;30445423 False 3 100;0;0 1.13 True ENSG00000167642 ENSG00000167642 HGNC:11247 STX3 gene STX3 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Microvillus inclusion disease, MIM#619445;Retinal dystrophy and microvillus inclusion disease, MIM#619446 24726755;29266534;25358429;29282386;30909251;29282386 False 3 100;0;0 1.13 True ENSG00000166900 ENSG00000166900 HGNC:11438 STXBP2 gene STXBP2 Expert Review;Expert Review Green Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101;Enteropathy" 23382066;28724787;29266534 False 3 100;0;0 1.13 True ENSG00000076944 ENSG00000076944 HGNC:11445 TMPRSS15 gene TMPRSS15 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Enterokinase deficiency, MIM# 226200 11719902;33061943 False 3 100;0;0 1.13 True ENSG00000154646 ENSG00000154646 HGNC:9490 TTC37 gene TTC37 Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM# 222470 20176027;17318842 False 3 100;0;0 1.13 True ENSG00000198677 ENSG00000198677 HGNC:23639 UNC45A gene UNC45A Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome, MIM# 619377;Cholestasis;Diarrhoea;Bone fragility;Impaired hearing 29429573 False 3 100;0;0 1.13 True ENSG00000140553 ENSG00000140553 HGNC:30594 WNT2B gene WNT2B Expert Review Green;Victorian Clinical Genetics Services Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 9, MIM# 618168 29909964 False 3 100;0;0 1.13 True ENSG00000134245 ENSG00000134245 HGNC:12781 ANO1 gene ANO1 Expert Review Amber;Literature Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Intestinal dysmotility syndrome, MIM# 620045;Impaired intestinal peristalsis;haemorrhagic diarrhoea;dysmorphic features 32487539 False 2 0;100;0 1.13 True ENSG00000131620 ENSG00000131620 HGNC:21625 AP1S1 gene AP1S1 Expert Review Amber;Literature Congenital Diarrhoea Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Non-syndromic congenital intestinal failure PMID: 32306098 False 2 0;100;0 1.13 True ENSG00000106367 ENSG00000106367 HGNC:559