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 Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Gastrointestinal defects and immunodeficiency syndrome, 243150;Inflammatory Bowel Disease (Very Early Onset) False 2 100;0;0 1.76 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAM17 gene ADAM17 Eligibility statement prior genetic testing;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal "?Inflammatory skin and bowel disease, neonatal, 1 614328;Gastrointestinal epithelial barrier disorders;Immunodeficiency 33, 300636;Immunodeficiency, isolated, 300584;?Inflammatory skin and bowel disease, neonatal, 1, 614328" False 2 100;0;0 1.76 False ENSG00000151694 ENSG00000151694 HGNC:195 ANO1 gene ANO1 Expert Review Amber;Literature Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Impaired intestinal peristalsis;haemorrhagic diarrhoea;dysmorphic features 32487539 False 2 0;100;0 1.76 False ENSG00000131620 ENSG00000131620 HGNC:21625 COL7A1 gene COL7A1 Expert list;Expert Review Amber Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Dystrophic epidermolysis bullosa 32084423 False 2 100;0;0 1.76 False ENSG00000114270 ENSG00000114270 HGNC:2214 FERMT1 gene FERMT1 Expert list;Expert Review Amber Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Kindler syndrome False 2 100;0;0 1.76 False ENSG00000101311 ENSG00000101311 HGNC:15889 IKBKG gene IKBKG Eligibility statement prior genetic testing;Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Unknown Ectodermal dysplasia and immunodeficiency 1, OMIM:300291 False 2 100;0;0 1.76 False ENSG00000073009 ENSG00000269335 HGNC:5961 ITGB2 gene ITGB2 Expert list;Expert Review Amber Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Unknown 27886173 False 2 100;0;0 1.76 False ENSG00000160255 ENSG00000160255 HGNC:6155 LIG4 gene LIG4 Expert list;Expert Review Amber Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders False 2 100;0;0 1.76 False ENSG00000174405 ENSG00000174405 HGNC:6601 LRBA gene LRBA Emory Genetics Laboratory;Expert Review Amber;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Immunodeficiency, common variable, 8, with autoimmunity (CVID 8) 614700 27302973 False 2 100;0;0 1.76 False ENSG00000198589 ENSG00000198589 HGNC:1742 NCF2 gene NCF2 Emory Genetics Laboratory;Expert Review Amber;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Chronic granulomatous disease due to deficiency of NCF-2 233710 False 2 100;0;0 1.76 False ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 Emory Genetics Laboratory;Expert Review Amber;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease (Very Early Onset);Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960 19692703;18580884;19262523;21900546;26289093;21472827;21122541;17435756 False 2 100;0;0 1.76 False ENSG00000100365 ENSG00000100365 HGNC:7662 NOD2 gene NOD2 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600;{Yao syndrome}, OMIM:617321 28826742;29358789;29795570 False 2 0;0;0 1.76 False ENSG00000167207 ENSG00000167207 HGNC:5331 PIK3CD gene PIK3CD Expert list;Expert Review Amber Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 14B, autosomal recessive, OMIM:619281 False 2 100;0;0 1.76 False ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert Review Amber;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Inflammatory Bowel Disease (Very Early Onset) False 2 50;0;50 1.76 False ENSG00000145675 ENSG00000145675 HGNC:8979 PLCG2 gene PLCG2 Expert Review Amber;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 False 2 50;0;50 1.76 False ENSG00000197943 ENSG00000197943 HGNC:9066 PTEN gene PTEN Emory Genetics Laboratory;Expert list;Expert Review Amber Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PTEN hamartoma tumor syndrome;Bannayan-Riley-Ruvalcaba syndrome 153480 False 2 100;0;0 1.76 False ENSG00000171862 ENSG00000171862 HGNC:9588 RET gene RET Emory Genetics Laboratory;Expert Review Amber;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Inflammatory Bowel Disease (Very Early Onset);Early Onset Inflammatory Bowel Disease False 2 0;0;0 1.76 False ENSG00000165731 ENSG00000165731 HGNC:9967 STAT1 gene STAT1 Expert list;Expert Review Amber Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders False 2 100;0;0 1.76 False ENSG00000115415 ENSG00000115415 HGNC:11362 ZAP70 gene ZAP70 Expert Review Amber;UKGTN Gastrointestinal epithelial barrier disorders Gastrointestinal disorders Gastroenterological disorders Inflammatory Bowel Disease (Very Early Onset) 26783323 False 2 50;0;50 1.76 False ENSG00000115085 ENSG00000115085 HGNC:12858