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 ABI3 gene ABI3 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000108798 ENSG00000108798 HGNC:29859 ACTB gene ACTB ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Actin beta deficiency (ACTB);Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia;neutrophil dysfunction;Phagocytic disorder;Mental retardation, short stature;Baraitser-Winter syndrome 1, 243310;Congenital defects of phagocyte number or function 32048120;10411937;32086639 False 1 0;0;100 8.99 False ENSG00000075624 ENSG00000075624 HGNC:132 AMFR gene AMFR Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe VZV;Varicella;HLH;Hemophagocytic lymphohistyocytosis 38277122 False 1 0;0;100 8.99 False ENSG00000159461 ENSG00000159461 HGNC:463 APOL1 gene APOL1 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trypanosomias;Trypanosomiasis;Defects in Intrinsic and Innate Immunity;Trypanosomiasis, susceptibility to 28827791;29470556;32048120;28537557;16720107;15894515;25100047;29077717;32086639 False 1 0;0;100 8.99 False ENSG00000100342 ENSG00000100342 HGNC:618 ARHGAP42 gene ARHGAP42 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease;systemic hypertension;immunological abnormalities 34232960 False 1 0;0;100 8.99 False ENSG00000165895 ENSG00000165895 HGNC:26545 ARHGEF1 gene ARHGEF1 IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Predominantly Antibody Deficiencies;Recurrent infections, bronchiectasis;Immunodeficiency 62, 618459;ARHGEF1 deficiency 32086639;30521495;32048120 False 1 0;50;50 8.99 False ENSG00000076928 ENSG00000076928 HGNC:681 ASXL1 gene ASXL1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency, MONDO:0015131 40742536 False 1 0;0;100 8.99 False ENSG00000171456 ENSG00000171456 HGNC:18318 ATG4A gene ATG4A Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mollaret s meningitis;recurrent HSV2 meningitis 33310865 False 1 0;0;100 8.99 False ENSG00000101844 ENSG00000101844 HGNC:16489 BRCA1 gene BRCA1 IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S, OMIM:617883;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Bone marrow failure 32086639;32048120 False 1 0;0;0 8.99 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Bone marrow failure 32086639;32048120 False 1 0;0;0 8.99 False ENSG00000139618 ENSG00000139618 HGNC:1101 C8G gene C8G ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Complement Deficiencies;Disseminated neisserial infections;Complement component 8 deficiency;Complement factor 8 defect 32048120;32086639 False 1 0;0;100 8.99 False ENSG00000176919 ENSG00000176919 HGNC:1354 CARD10 gene CARD10 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 89 and autoimmunity, OMIM:619632 32238915 False 1 0;0;100 8.99 False ENSG00000100065 ENSG00000100065 HGNC:16422 CD274 gene CD274 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Autoimmune disease, multisystem, infantile-onset, 5, OMIM:621235 38634869 False 1 0;0;100 8.99 False ENSG00000120217 ENSG00000120217 HGNC:17635 CD28 gene CD28 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal cutaneous horn;immunodeficiency;papillomavirus infection;tree man syndrome;warts 34214472 False 1 0;0;100 8.99 False ENSG00000178562 ENSG00000178562 HGNC:1653 CFHR1 gene CFHR1 Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections;Age related macular degeneration;Complement Deficiencies;Atypical hemolytic uremic syndrome susceptibility 32048120;32086639 False 1 0;67;33 8.99 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections;Age related macular degeneration;Complement Deficiencies;Atypical hemolytic uremic syndrome susceptibility 32048120;32086639 False 1 0;50;50 8.99 False ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections;Age related macular degeneration;Complement Deficiencies;Atypical hemolytic uremic syndrome susceptibility 32048120;32086639 False 1 0;67;33 8.99 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections;Age related macular degeneration;Complement Deficiencies;Atypical hemolytic uremic syndrome susceptibility 32048120;32086639 False 1 0;67;33 8.99 False ENSG00000134365 ENSG00000134365 HGNC:16979 CFHR5 gene CFHR5 Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement Deficiencies;Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections;Nephropathy due to CFHR5 deficiency, 614809;Atypical hemolytic-uremic syndrome with anti-factor H antibodies;Atypical hemolytic uremic syndrome susceptibility 32048120;28673452;20800271;22503529;32086639 False 1 0;80;20 8.99 False ENSG00000134389 ENSG00000134389 HGNC:24668 CHUK gene CHUK Expert Review;Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal recurrent infections;skeletal abnormalities;absent secondary lymphoid structures;reduced B cell numbers;hypogammaglobulinemia;lymphocytic infiltration of intestine and liver 35748970;34533979 False 1 100;0;0 8.99 False ENSG00000213341 ENSG00000213341 HGNC:1974 CLCN7 gene CLCN7 Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, OMIM:611490;Osteopetrosis, autosomal dominant 2, OMIM:166600 32048120;32086639 False 1 0;0;100 8.99 False ENSG00000103249 ENSG00000103249 HGNC:2025 CNBP gene CNBP ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Other Myotonic dystrophy 2, OMIM:602668;Myotonic dystrophy type 2, MONDO:0011266 12601109 False 1 33;33;33 8.99 False ENSG00000169714 ENSG00000169714 HGNC:13164 COLEC11 gene COLEC11 ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Mannan-binding lectin serine protease (MASP) deficiency False 1 0;50;50 8.99 False ENSG00000118004 ENSG00000118004 HGNC:17213 COPG1 gene COPG1 Expert Review;Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal persistent bacterial infection;persistent viral infections;defective humoral and cellular immunity 35748970;33529166 False 1 100;0;0 8.99 False ENSG00000181789 ENSG00000181789 HGNC:2236 CRACR2A gene CRACR2A Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal late onset combined immunodeficiency PMID:34908525 False 1 0;0;100 8.99 False ENSG00000130038 ENSG00000130038 HGNC:28657 CSF2 gene CSF2 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Behcet-like disease;Pathergy 33349924 False 1 0;0;100 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000164400 ENSG00000164400 HGNC:2434 CTNNBL1 gene CTNNBL1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Primary Immunodeficiency;Autoimmune Cytopenias;Common variable immunodeficiency 32484799 False 1 0;0;100 8.99 False ENSG00000132792 ENSG00000132792 HGNC:15879 CXorf36 gene CXorf36 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000147113 ENSG00000147113 HGNC:25866 EPCAM gene EPCAM Expert Review Red;GOSH PID v.8.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217 False 1 0;50;50 8.99 False ENSG00000119888 ENSG00000119888 HGNC:11529 ERCC2 gene ERCC2 Expert Review Red;London North GLH;NHS GMS;North West GLH;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD);CD4 + lymphopenia 11737070 False 1 0;0;100 8.99 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Red;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal none none False 1 0;0;100 8.99 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272;Bone marrow failure;Fanconi Anemia Type Q;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage 32086639;32048120 False 1 0;0;0 8.99 False ENSG00000175595 ENSG00000175595 HGNC:3436 EZR gene EZR Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal hypogammaglobulinemia;immunodeficiency 37301410 False 1 0;0;100 8.99 False ENSG00000092820 ENSG00000092820 HGNC:12691 FAAP24 gene FAAP24 Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Diseases of Immune Dysregulation;EBV infection-driven lymphoproliferative disease 32086639;17289582;27473539;32048120 False 1 0;0;100 8.99 False ENSG00000131944 ENSG00000131944 HGNC:28467 FANCF gene FANCF IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Fanconi Anemia Type F;Fanconi anemia, complementation group F, 603467;Bone marrow failure 32086639;32048120 False 1 0;0;0 8.99 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCI gene FANCI IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Fanconi Anemia Type I;Bone marrow failure 32086639;32048120 False 1 0;0;0 8.99 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCM gene FANCM IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Bone marrow failure;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Fanconi Anemia Type M 32086639;32048120 False 1 0;0;0 8.99 False ENSG00000187790 ENSG00000187790 HGNC:23168 FBF1 gene FBF1 Expert Review Red;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology False 1 0;0;100 8.99 False ENSG00000188878 ENSG00000188878 HGNC:24674 FBRS gene FBRS Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000156860 ENSG00000156860 HGNC:20442 FCGR1A gene FCGR1A ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Fc receptor deficiencies False 1 0;50;50 8.99 False ENSG00000150337 ENSG00000150337 HGNC:3613 FCGR2A gene FCGR2A ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Fc receptor deficiencies False 1 0;50;50 8.99 False ENSG00000143226 ENSG00000143226 HGNC:3616 FCGR2B gene FCGR2B ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Fc receptor deficiencies False 1 0;50;50 8.99 False ENSG00000072694 ENSG00000072694 HGNC:3618 FCGR3B gene FCGR3B Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Red;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown Neutropenia,alloimmuneneonatal;Neutropenia, alloimmune neonatal;Fc receptor deficiencies;Neutropenia, autoimmune neonatal;Neutropenia, autoimmune neonatal 1978690 False 1 0;33;67 8.99 False ENSG00000162747 ENSG00000162747 HGNC:3620 FCGRT gene FCGRT ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Fc receptor deficiencies False 1 0;50;50 8.99 False ENSG00000104870 ENSG00000104870 HGNC:3621 FCN3 gene FCN3 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to ficolin 3 deficiency, OMIM:613860 19535802;20971976;22226667;25662573;29907670;31408713;32048120;32086639;32634042 False 1 0;50;50 8.99 False ENSG00000142748 ENSG00000142748 HGNC:3625 FOXM1 gene FOXM1 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000111206 ENSG00000111206 HGNC:3818 FPR2 gene FPR2 ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Localized juvenile peridontitis False 1 0;50;50 8.99 False ENSG00000171049 ENSG00000171049 HGNC:3827 FPR3 gene FPR3 ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Localized juvenile peridontitis False 1 0;50;50 8.99 False ENSG00000187474 ENSG00000187474 HGNC:3828 GAD1 gene GAD1 A- or hypo-gammaglobulinaemia v1.25;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Cerebral palsy, spastic quadriplegic, 1, 603513 False 1 0;0;100 8.99 False ENSG00000128683 ENSG00000128683 HGNC:4092 GIMAP6 gene GIMAP6 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Lymphopenia;Sinopulmonary Infections 33328581 False 1 0;0;100 8.99 False ENSG00000133561 ENSG00000133561 HGNC:21918 GTF2H5 gene GTF2H5 London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology False 1 0;0;100 8.99 False ENSG00000272047 ENSG00000272047 HGNC:21157 HCK gene HCK Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammatory disease;Cutaneous vasculitis;Lung inflammation;Lung fibrosis;Interstitial lung disease 34536415 False 1 0;0;100 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101336 ENSG00000101336 HGNC:4840 HS3ST6 gene HS3ST6 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Angioedema, hereditary, 8, OMIM:619367 33508266 False 1 0;0;100 8.99 False ENSG00000162040 ENSG00000162040 HGNC:14178 ICOSLG gene ICOSLG Expert Review Red;IUIS Classification December 2019;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Recurrent bacterial and viral infections;Immunodeficiencies affecting cellular and humoral immunity 32086639;32048120;30498080;31532372;30463956 False 1 0;67;33 8.99 False ENSG00000160223 ENSG00000160223 HGNC:17087 IFNG gene IFNG Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Mendelian susceptibility to mycobacterial disease 32163377 False 1 0;0;100 8.99 False ENSG00000111537 ENSG00000111537 HGNC:5438 IGHG2 gene IGHG2 ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Immunoglobulin chain deficiencies False 1 0;50;50 8.99 False ENSG00000211893 ENSG00000211893 HGNC:5526 IL12RB2 gene IL12RB2 Expert list;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Susceptibility to mycobacteria and Salmonella 30578351;31953710 False 1 0;0;100 8.99 False ENSG00000081985 ENSG00000081985 HGNC:5972 IL17A gene IL17A Expert Review Red;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Immunodeficiency 5;Arthritis False 1 0;50;50 8.99 False ENSG00000112115 ENSG00000112115 HGNC:5981 IL18 gene IL18 ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Defects with susceptibility to mycobacterial infection (MSMD) False 1 0;50;50 8.99 False ENSG00000150782 ENSG00000150782 HGNC:5986 IL18BP gene IL18BP Expert list;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal "{?Hepatitis, fulminant viral, susceptibility to} 618549" 31213488;31953710 False 1 0;0;100 8.99 False ENSG00000137496 ENSG00000137496 HGNC:5987 IL22 gene IL22 Expert Review Red;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal AutoAb Chronic Mucocutaneous Candidiasis False 1 0;50;50 8.99 False ENSG00000127318 ENSG00000127318 HGNC:14900 IL23A gene IL23A ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Defects with susceptibility to mycobacterial infection (MSMD) False 1 0;50;50 8.99 False ENSG00000110944 ENSG00000110944 HGNC:15488 IL31RA gene IL31RA Expert Review Red;London North GLH;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Amyloidosis, primary localized cutaneous 2, 613955 False 1 0;0;0 8.99 False ENSG00000164509 ENSG00000164509 HGNC:18969 IL37 gene IL37 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Infantile inflammatory bowel disease 33674380 False 1 0;0;100 8.99 False ENSG00000125571 ENSG00000125571 HGNC:15563 IL6 gene IL6 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown Potential marker for respiratory failure when infected with COVID-19 medRxiv 2020.04.01.20047381;doi: https://doi.org/10.1101/2020.04.01.20047381 False 1 0;0;100 8.99 False ENSG00000136244 ENSG00000136244 HGNC:6018 INO80 gene INO80 Expert Review Red;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal common variable immunodeficiency, MONDO:0015517 25312759 False 1 67;0;33 8.99 False ENSG00000128908 ENSG00000128908 HGNC:26956 IRAK1 gene IRAK1 Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Defects in Intrinsic and Innate Immunity;Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1 32048120;28069966;32086639 False 1 0;0;100 8.99 False ENSG00000184216 ENSG00000184216 HGNC:6112 ITGAM gene ITGAM Expert Review Red;GRID V2.0;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown Systemic lupus erythematous False 1 0;50;50 8.99 False ENSG00000169896 ENSG00000169896 HGNC:6149 LRRC32 gene LRRC32 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown Common variable immunodeficiency;Enteropathy;Lymphopenia;Reduced Tregs 34059789 False 1 0;0;100 8.99 False ENSG00000137507 ENSG00000137507 HGNC:4161 LRRC8A gene LRRC8A A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agammaglobulinemia 5, 613506;Agammaglobulinemia False 1 0;25;75 8.99 False ENSG00000136802 ENSG00000136802 HGNC:19027 LSM11 gene LSM11 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Type I interferonopathy;Aicardi-Gouti res syndrome 33230297 False 1 0;100;0 8.99 False ENSG00000155858 ENSG00000155858 HGNC:30860 LYZ gene LYZ Expert Review Red;London North GLH;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyloidosis, renal, 105200 False 1 0;0;100 8.99 False ENSG00000090382 ENSG00000090382 HGNC:6740 MAP1LC3B2 gene MAP1LC3B2 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mollaret s meningitis;recurrent HSV2 meningitis 33310865 False 1 0;0;100 8.99 False ENSG00000258102 ENSG00000258102 HGNC:34390 MAPK8 gene MAPK8 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown chronic mucocutaneous candidiasis;connective tissue disorders 31901076 False 1 0;100;0 8.99 False ENSG00000107643 ENSG00000107643 HGNC:6881 MASP1 gene MASP1 ESID Registry 20171117;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Mannan-binding lectin serine protease (MASP) deficiency False 1 0;50;50 8.99 False ENSG00000127241 ENSG00000127241 HGNC:6901 MASP2 gene MASP2 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal MASP2 deficiency, OMIM:613791;Mannan-binding lectin serine protease (MASP) deficiency;Pyogenic infections, inflammatory lung disease, autoimmunity 32048120;24658431;32086639 False 1 0;33;67 8.99 False ENSG00000009724 ENSG00000009724 HGNC:6902 MCM10 gene MCM10 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal 32865517 False 1 0;100;0 8.99 False ENSG00000065328 ENSG00000065328 HGNC:18043 MED13L gene MED13L Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000123066 ENSG00000123066 HGNC:22962 MICA gene MICA Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000204520 ENSG00000204520 HGNC:7090 MPI gene MPI Expert Review Red;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257 False 1 0;0;100 8.99 False ENSG00000178802 ENSG00000178802 HGNC:7216 MR1 gene MR1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Warts, bacterial infections, MAIT cells deficiency 32709702 False 1 0;0;100 8.99 False ENSG00000153029 ENSG00000153029 HGNC:4975 MRE11 gene MRE11 ESID Registry 20171117;Expert Review Red;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder 1 604391;AT-like disorder 8445618;10612394;15574463;32212377;29709199 False 1 0;33;67 8.99 False ENSG00000020922 ENSG00000020922 HGNC:7230 MS4A1 gene MS4A1 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Common variable immunodeficiency disorders (CVID);Recurrent infections;Immunodeficiency, common variable, 5 613495;Predominantly Antibody Deficiencies 32048120;27250108;20038800;32086639 False 1 0;33;67 8.99 False ENSG00000156738 ENSG00000156738 HGNC:7315 MSH6 gene MSH6 Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Family or personal history of cancer;Mismatch repair cancer syndrome 276300;Endometrial cancer, familial 608089;Predominantly Antibody Deficiencies;Colorectal cancer, hereditary nonpolyposis, type 5 614350 32048120;32086639 False 1 0;0;100 8.99 False ENSG00000116062 ENSG00000116062 HGNC:7329 MTPAP gene MTPAP Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000107951 ENSG00000107951 HGNC:25532 MYOF gene MYOF Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Angioedema, hereditary, 7, OMIM:619366 32542751 False 1 0;0;100 8.99 False ENSG00000138119 ENSG00000138119 HGNC:3656 NBAS gene NBAS Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Infantile liver failure syndrome 2, 616483;Fever induces liver failure;Fever induced liver failure;Defects in intrinsic and innate immunity 32048120;32086639 False 1 0;0;100 8.99 False ENSG00000151779 ENSG00000151779 HGNC:15625 NFKBID gene NFKBID Expert Review Red;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology 22761313;26973645 False 1 0;0;100 8.99 False ENSG00000167604 ENSG00000167604 HGNC:15671 NOS2 gene NOS2 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal {Malaria, resistance to} 611162;Disseminated CMV disease 12433515;31995689;11207313 False 1 0;0;100 8.99 False ENSG00000007171 ENSG00000007171 HGNC:7873 ODC1 gene ODC1 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000115758 ENSG00000115758 HGNC:8109 OSTM1 gene OSTM1 Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Osteopetrosis with hypocalcemia, neurologic features;Defects in intrinsic and innate immunity 32048120;32086639 False 1 0;100;0 8.99 False ENSG00000081087 ENSG00000081087 HGNC:21652 PARP1 gene PARP1 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown 31915279 False 1 0;0;100 8.99 False ENSG00000143799 ENSG00000143799 HGNC:270 PDCD1 gene PDCD1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Autoimmunity;splenomegaly;pneumonitis;tubercolosis 34183838 False 1 0;0;0 8.99 False ENSG00000188389 ENSG00000188389 HGNC:8760 PLEKHM1 gene PLEKHM1 Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Osteopetrosis;Defects in Intrinsic and Innate Immunity;Defects in intrinsic and innate immunity 32048120;32086639 False 1 0;0;100 8.99 False ENSG00000225190 ENSG00000225190 HGNC:29017 PMS2 gene PMS2 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors;Mismatch repair cancer syndrome 276300;Post-Meiotic Segregation 2 (PMS2) deficiency;CSR defects and Hyper IgM (HIGM) syndromes;Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors;Combined immunodeficiencies with associated or syndromic features 15077197;32048120;7661930;9488480;16507833;10763829;32086639 False 1 0;67;33 8.99 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD2 gene POLD2 IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Polymerase d 2 deficiency;Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability;Immunodeficiencies affecting cellular and humoral immunity;Low CD4 T cells;Low B cells, normal maturation 31449058;32086639;32048120 False 1 0;50;50 8.99 False ENSG00000106628 ENSG00000106628 HGNC:9176 POLE2 gene POLE2 Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism);Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism;Combined immunodeficiencies with associated or syndromic features 32048120;32086639 False 1 0;0;100 8.99 False ENSG00000100479 ENSG00000100479 HGNC:9178 POLR3F gene POLR3F Expert list;Expert Review Red Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection 30211253;31953710 False 1 0;0;100 8.99 False ENSG00000132664 ENSG00000132664 HGNC:15763 POU2AF1 gene POU2AF1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia;Immunodeficiency;Bob1 deficiency 33571536 False 1 0;0;100 8.99 False ENSG00000110777 ENSG00000110777 HGNC:9211 PSEN1 gene PSEN1 Expert Review Red;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hidradenitis suppurative with cutaneous hyperpigmentation;Defects in Intrinsic and Innate Immunity;Acne inversa, familial, 3 613737 20929727 False 1 0;0;100 8.99 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSMG2 gene PSMG2 IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy);Panniculitis, lipodystrophy, autoimmune hemolytic anemia;Autoinflammatory Disorders 30664889;32086639;32048120 False 1 0;50;50 8.99 False ENSG00000128789 ENSG00000128789 HGNC:24929 PTPN22 gene PTPN22 Expert Review Red;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Systemic lupus erythematosus susceptibility to};Lupus susceptibility False 1 0;0;100 8.99 False ENSG00000134242 ENSG00000134242 HGNC:9652 RAD50 gene RAD50 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, OMIM:613078;Bone marrow failure;Immunodeficiency 33378670 False 1 0;0;100 8.99 False ENSG00000113522 ENSG00000113522 HGNC:9816 RAP1B gene RAP1B Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Other Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654;thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000 32627184;35451551;37850357;39225097 False 1 50;0;50 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000127314 ENSG00000127314 HGNC:9857 RELN gene RELN Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ankylosing spondylitis 32001840 False 1 0;0;100 8.99 False ENSG00000189056 ENSG00000189056 HGNC:9957 RET gene RET Expert Review Red;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Central hypoventilation syndrome, congenital 209880 12086152;9497256 False 1 0;50;50 8.99 False ENSG00000165731 ENSG00000165731 HGNC:9967 RGS10 gene RGS10 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal short stature;GH deficiency;immunodeficiency;hypergammaglobulinemia;reduced lymphocyte chemotaxis 34315806 False 1 0;100;0 8.99 False ENSG00000148908 ENSG00000148908 HGNC:9992 RHOG gene RHOG Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal HLH;hemophagocytic lymphohistiocytosis 33513601 False 1 0;0;100 8.99 False ENSG00000177105 ENSG00000177105 HGNC:672 SAMD3 gene SAMD3 Expert Review Red;London North GLH;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HLH, abnormal GRA False 1 0;0;100 8.99 False ENSG00000164483 ENSG00000164483 HGNC:21574 SART3 gene SART3 Expert Review Red;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown Porokeratosis False 1 0;0;100 8.99 False ENSG00000075856 ENSG00000075856 HGNC:16860 SEMA3E gene SEMA3E ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome;immune-mediated cerebellar ataxia;Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs;Charge syndrome 214800;Combined immunodeficiencies with associated or syndromic features 12144540;1735828;11241468;32048120;21055784;32086639 False 1 0;33;67 8.99 False ENSG00000170381 ENSG00000170381 HGNC:10727 SH3BP2 gene SH3BP2 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cherubism, OMIM:118400;Autoinflammatory Disorders 25220465;11381256;25705883;25470448;32048120;32086639;29669173;11113824;22640988;28914985;16053841 False 1 0;0;100 8.99 False ENSG00000087266 ENSG00000087266 HGNC:10825 SH3KBP1 gene SH3KBP1 IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females SH3KBP1 (CIN85) deficiency;Severe bacterial infections;Predominantly Antibody Deficiencies;Immunodeficiency 61, 300310 32086639;32048120;29636373;21708930 False 1 0;50;50 8.99 False ENSG00000147010 ENSG00000147010 HGNC:13867 SIRT1 gene SIRT1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune disease, MONDO:0007179 23473037 False 1 0;0;100 8.99 False ENSG00000096717 ENSG00000096717 HGNC:14929 SLC13A4 gene SLC13A4 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000164707 ENSG00000164707 HGNC:15827 SNX10 gene SNX10 IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Osteopetrosis with visual impairment;Defects in intrinsic and innate immunity 32048120;32086639 False 1 0;0;0 8.99 False ENSG00000086300 ENSG00000086300 HGNC:14974 STAT5A gene STAT5A ESID Registry 20171117;Expert Review Red;GOSH PID v.8.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown Combined immunodeficiency;Defects with susceptibility to mycobacterial infection (MSMD) 16418296 False 1 0;0;100 8.99 False ENSG00000126561 ENSG00000126561 HGNC:11366 STN1 gene STN1 IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres;Bone marrow failure;Combined immunodeficiencies with associated or syndromic features 32048120;32086639 False 1 0;0;0 8.99 False ENSG00000107960 ENSG00000107960 HGNC:26200 TBX21 gene TBX21 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects with susceptibility to mycobacterial infection (MSMD);Defects in Intrinsic and Innate Immunity 33296702 False 1 0;0;100 8.99 False ENSG00000073861 ENSG00000073861 HGNC:11599 TCIRG1 gene TCIRG1 IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Defects in intrinsic and innate immunity;Osteopetrosis with hypocalcemia 32048120;32086639 False 1 0;0;0 8.99 False ENSG00000110719 ENSG00000110719 HGNC:11647 THBD gene THBD ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 6;Atypical hemolytic-uremic syndrome;Complement Deficiencies;Thrombomodulin deficiency 32048120;32086639 False 1 0;50;50 8.99 False ENSG00000178726 ENSG00000178726 HGNC:11784 TIRAP gene TIRAP ESID Registry 20171117;Expert Review Red;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Staphylococcal disease during childhood;Defects of TLR/NFkappa-B signalling;TIRAP deficiency;Defects in intrinsic and innate immunity 32048120;28235196;32086639 False 1 0;0;100 8.99 False ENSG00000150455 ENSG00000150455 HGNC:17192 TLN1 gene TLN1 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown lymphopenia, MONDO:0003783 35861643 False 1 0;0;100 8.99 False ENSG00000137076 ENSG00000137076 HGNC:11845 TNFRSF13B gene TNFRSF13B A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Red;GOSH PID v.8.0;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency, common variable, 2, 240500;Variable clinical expression;Common variable immunodeficiency disorders (CVID);Immunodeficiency, common variable, 2;IgA with IgG subclass deficiency;IGAD;Isolated IgG subclass deficiency;Selective IgA deficiency;Immunoglobulin A deficiency 2, 609529;Predominantly Antibody Deficiencies;CVID 16007086;18981294;29114388;16007087;32048120;28834165;32086639 False 1 0;17;83 8.99 False ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF4 gene TNFRSF4 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency;Immunodeficiencies affecting cellular and humoral immunity;Impaired immunity to HHV8, Kaposis sarcoma;Combined immunodeficiency 32086639;23897980;32048120 False 1 0;50;50 8.99 False ENSG00000186827 ENSG00000186827 HGNC:11918 TNFSF11 gene TNFSF11 IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Osteopetrosis with severe growth retardation;Defects in intrinsic and innate immunity 32048120;32086639 False 1 0;0;0 8.99 False ENSG00000120659 ENSG00000120659 HGNC:11926 TNFSF12 gene TNFSF12 ESID Registry 20171117;Expert Review Red;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immunodeficiency disorders (CVID);Immunodeficiency, common variable with lack of anti-pneumococcal antibody;Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia;Predominantly Antibody Deficiencies;Pneumonia, bacterial infections, warts, thrombocytopenia 32048120;23493554;32086639 False 1 0;50;50 8.99 False ENSG00000239697 ENSG00000239697 HGNC:11927 TNFSF13 gene TNFSF13 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal APRIL deficiency;Common variable immunodeficiency 32298700 False 1 0;0;0 8.99 False ENSG00000161955 ENSG00000161955 HGNC:11928 TNFSF9 gene TNFSF9 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal EBV lymphoproliferation;smooth muscle tumors 35657354 False 1 0;0;100 8.99 False ENSG00000125657 ENSG00000125657 HGNC:11939 TNIP1 gene TNIP1 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000145901 ENSG00000145901 HGNC:16903 TOM1 gene TOM1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown early-onset autoimmunity;antibody deficiency;combined immunodeficiency;primary immunodeficiency 31263572 False 1 0;0;100 8.99 False ENSG00000100284 ENSG00000100284 HGNC:11982 TSPAN14 gene TSPAN14 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000108219 ENSG00000108219 HGNC:23303 TUBGCP3 gene TUBGCP3 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000126216 ENSG00000126216 HGNC:18598 UBA1 gene UBA1 Expert Review Red;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Other VEXAS syndrome, somatic, OMIM:301054 33108101 False 1 67;0;33 8.99 False ENSG00000130985 ENSG00000130985 HGNC:12469 UNC119 gene UNC119 ESID Registry 20171117;Expert Review Red;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Immunodeficiency 13, OMIM:615518 22184408 False 1 0;33;67 8.99 False ENSG00000109103 ENSG00000109103 HGNC:12565 WRAP53 gene WRAP53 IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients;microcephaly, neurodevelopmental delay;Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;Bone marrow failure;Combined immunodeficiencies with associated or syndromic features 32048120;32086639 False 1 0;0;0 8.99 False ENSG00000141499 ENSG00000141499 HGNC:25522 ZC3HC1 gene ZC3HC1 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000091732 ENSG00000091732 HGNC:29913 ZFP36 gene ZFP36 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000128016 ENSG00000128016 HGNC:12862 ZNF34 gene ZNF34 Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown primary immunodeficiency False 1 0;0;100 8.99 False ENSG00000196378 ENSG00000196378 HGNC:13098