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 ACD gene ACD Expert Review Green;GRID V2.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 25205116;25233904 False 3 100;0;0 8.99 False ENSG00000102977 ENSG00000102977 HGNC:25070 ACP5 gene ACP5 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies;Spondyloenchondrodysplasia with immune dysregulation, 607944;Type 1 interferonopathies;Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections;Autoinflammatory Disorders 21217755;26789720;21217752;18924170;26951490;26346816 False 3 100;0;0 8.99 False ENSG00000102575 ENSG00000102575 HGNC:124 ADA gene ADA Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, OMIM:102700;Adenosine deaminase deficiency, partial, OMIM:102700 3475710;6134754;8227344;2567118;6200875;2166947 False 3 100;0;0 8.99 False ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688;Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever;Autoinflammatory Disorders 24552284;24552285;29564582;27059682;26922074;27444081 False 3 100;0;0 8.99 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAM17 gene ADAM17 Expert Review Green;GOSH PID v.8.0;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 BIALLELIC, autosomal or pseudoautosomal inflammatory skin;Inflammatory skin and bowel disease, neonatal, 1;Inflammatory skin and bowel disease, neonatal 1, 614328;ADAM17 deficiency;Autoinflammatory Disorders;IBD-1;Early onset diarrhea and skin lesions;Recurrent infections 29560122;22010916;25058236;32048120;20603312;32086639;26683521;11149563;25804906;25171914;28930861 False 3 20;80;0 8.99 False ENSG00000151694 ENSG00000151694 HGNC:195 ADAR gene ADAR ESID Registry 20171117;Expert Review Green;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 Aicardi-Goutieres syndrome 6, OMIM:615010;Fever Syndromes and Related Diseases;Type 1 interferonopathies;Autoinflammatory Disorders 24183309;27643693;25604658;25769924;24262145;23001123 False 3 100;0;0 8.99 False ENSG00000160710 ENSG00000160710 HGNC:225 AGR2 gene AGR2 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis-like syndrome 34952832 False 3 100;0;0 8.99 False ENSG00000106541 ENSG00000106541 HGNC:328 AICDA gene AICDA A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2, OMIM:605258 12958596;21700883;27701145;35748970;15893695;35271747 False 3 100;0;0 8.99 False ENSG00000111732 ENSG00000111732 HGNC:13203 AIRE gene AIRE ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300;autoimmune polyendocrine syndrome type 1, MONDO:0009411 19758376;29949487;29108822;28257655;19807739;10677297;9398839;11600535;29483906;9888391;28911151;9735375;11836330;29437776;9837820;30565240 False 3 100;0;0 8.99 False ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis with sensorineural deafness;Reticular dysgenesis, 267500;Reticular dysgenesis, AK2 deficiency;Reticular Dysgenesis AK2 (SCID);Granulocytopenia and deafness;Immunodeficiencies affecting cellular and humoral immunity 19043416;19043417 False 3 100;0;0 8.99 False ENSG00000004455 ENSG00000004455 HGNC:362 ALPI gene ALPI Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Intestinal Alkaline Phosphatase deficiency;Inflammatory bowel disease;Autoinflammatory Disorders;ALPI deficiency 32048120;29567797;32086639 False 3 33;67;0 8.99 False ENSG00000163295 ENSG00000163295 HGNC:437 ALPK1 gene ALPK1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ROSAH syndrome, OMIM:614979 30967659;31939038;35868845 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000073331 ENSG00000073331 HGNC:20917 ANKZF1 gene ANKZF1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265 28302725;36857589 False 3 67;33;0 8.99 False ENSG00000163516 ENSG00000163516 HGNC:25527 AP3B1 gene AP3B1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2;HPS2;Hermansky-Pudlak syndrome, 608233;Immunodeficient HPS;Hermansky-Pudlak syndrome with neutropenia;Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH;Diseases of Immune Dysregulation 19679886;11809908;10024875;16551969;16537806;16507770;28585318;30974211;23403622;8042664;14566336 False 3 100;0;0 8.99 False ENSG00000132842 ENSG00000132842 HGNC:566 ARPC1B gene ARPC1B Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718;Combined immune deficiency with or without thrombocytopenia;Inflammatory predisposition 28368018;29127144;27965109;33679784 False 3 100;0;0 8.99 False ENSG00000130429 ENSG00000130429 HGNC:704 ARPC5 gene ARPC5 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency, MONDO:0015131 37349293;37382373 False 3 100;0;0 8.99 False ENSG00000162704 ENSG00000162704 HGNC:708 ATM gene ATM ESID Registry 20171117;Expert Review Green;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 Ataxia-telangiectasia, OMIM:208900;Combined immunodeficiencies with associated or syndromic features;Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations 27884168;2005780;2136770;7792600;27421701 False 3 100;0;0 8.99 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP6AP1 gene ATP6AP1 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, 300972;Hepatopathy, leukopenia, low copper;Predominantly Antibody Deficiencies;Immunodeficiency and hepatopathy with or without neurologic features 27231034 False 3 100;0;0 8.99 False ENSG00000071553 ENSG00000071553 HGNC:868 B2M gene B2M Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 43,241600;Immunodeficiency by defective expression of HLA class 1;Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c;Immunodeficiencies affecting cellular and humoral immunity 25702838;4186801 False 3 100;0;0 8.99 False ENSG00000166710 ENSG00000166710 HGNC:914 BACH2 gene BACH2 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lymphocytic colitis, sinopulmonary infections;Diseases of Immune Dysregulation;infantile onset enterocolitis;hypogammaglobulinaemia;BACH2-related immunodeficiency and autoimmunity (BRIDA) 27680876;28530713;27807919;30527062 False 3 100;0;0 8.99 False ENSG00000112182 ENSG00000112182 HGNC:14078 BCL10 gene BCL10 Expert Review Green;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 ?Immunodeficiency 37, 616098;Combined immunodeficiency with B cell, T cell, and fibroblast defects;Recurrent bacterial and viral infections, candidiasis, gastroenteritis;Immunodeficiencies affecting cellular and humoral immunity 32086639;25365219;32048120 False 3 67;33;0 8.99 False ENSG00000142867 ENSG00000142867 HGNC:989 BLM gene BLM ESID Registry 20171117;Expert Review Green;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 Bloom syndrome, OMIM:210900;Immunodeficiency;Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability;Combined immunodeficiencies with associated or syndromic features 7585968;8231788;9482582;9285778;17407155 False 3 100;0;0 8.99 False ENSG00000197299 ENSG00000197299 HGNC:1058 BLNK gene BLNK A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Agammaglobulinemia 4, 613502;agammaglobulinaemia with absent B cells;Agammaglobulinemia 4;Agammaglobulinemia;Severe bacterial infections, normal numbers of pro-B cells;Predominantly Antibody Deficiencies 10583958;19302039;24582315;25893637 False 3 100;0;0 8.99 False ENSG00000095585 ENSG00000095585 HGNC:14211 BLOC1S6 gene BLOC1S6 Expert Review Green;GRID V2.0;GRID V2.0North West GLH;NHS GMS;Victorian Clinical Genetics Services, London North GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hermansky-pudlak syndrome 9, 614171;HPS9, palladin deficiency (NK cell defect);Immune Dysregulation 22461475;20301464;26575419;21665000;32245340 False 3 0;67;33 8.99 False ENSG00000104164 ENSG00000104164 HGNC:8549 BTK gene BTK A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinemia and isolated hormone deficiency;Agammaglobulinemia, X-linked;Agammaglobulinemia, X-linked 1, 300755;Agammaglobulinemia and isolated hormone deficiency, 307200;Agammaglobulinemia, X-linked 1 (XLA);Agammaglobulinemia;agammaglobulinaemia;CVID;Severe bacterial infections, normal numbers of pro-B cells;Predominantly Antibody Deficiencies 20301626 False 3 100;0;0 8.99 False ENSG00000010671 ENSG00000010671 HGNC:1133 C17orf62 gene C17orf62 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 5, autosomal recessive, OMIM:618935;Autosomal recessive CGD EROS;Congenital defects of phagocyte number or function;Chronic granulomatous disease 30312704;30361506;32086639;32048120;28351984 False 3 50;50;0 8.99 False ENSG00000178927 ENSG00000178927 HGNC:28672 C1QA gene C1QA ESID Registry 20171117;Expert Review Green;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 C1q deficiency, 613652;Complement component 1 deficiency;Immunodeficiency due to a classical component pathway complement deficiency;SLE, infections with encapsulated organisms;Complement Deficiencies 25133636;8840296;21654842;28601358;26032012;7594474;28601358 False 3 100;0;0 8.99 False ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB ESID Registry 20171117;Expert Review Green;GRID V2.0;Inherited complement deficiency v0.11;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 Immunodeficiency due to an early component of complement deficiency, 613652;C1q deficiency;Complement component 1 deficiency;SLE;lupus-like disease;susceptibility to invasive bacterial infection;SLE, infections with encapsulated organisms;Complement Deficiencies 9476130;17513176;2894352;23651859;24160257;25454803;12133956 False 3 100;0;0 8.99 False ENSG00000173369 ENSG00000173369 HGNC:1242 C1QC gene C1QC ESID Registry 20171117;Expert Review Green;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 C1q deficiency, 613652;Complement component 1 deficiency;Immunodeficiency due to a classical component pathway complement deficiency;SLE, infections with encapsulated organisms;Complement Deficiencies 8630118;21654842;7900940;24157463;8630118 False 3 100;0;0 8.99 False ENSG00000159189 ENSG00000159189 HGNC:1245 C1R gene C1R ESID Registry 20171117;Expert Review Green;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 C1r/C1s deficiency, combined, Lupus;Complement component 1 deficiency;Immunodeficiency due to a classical component pathway complement deficiency;SLE;pyogenic infections;SLE, infections with encapsulated organisms, Ehlers Danlos phenotype;Complement Deficiencies 28544690;21784777;27745832;29795138;28711143 False 3 75;25;0 8.99 False ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S ESID Registry 20171117;Expert Review Green;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 C1s deficiency, 613783;C1s deficiency, Lupus;Complement component 1 deficiency;SLE;pyogenic infections;SLE, infections with encapsulated organisms, Ehlers Danlos phenotype;Complement Deficiencies 27745832;11390518;20727163;9856483 False 3 75;25;0 8.99 False ENSG00000182326 ENSG00000182326 HGNC:1247 C2 gene C2 ESID Registry 20171117;Expert Review Green;GRID V2.0;Inherited complement deficiency v0.11;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 C2 deficiency, OMIM:217000;complement component 2 deficiency, MONDO:0009006 1577763;8621452;11079100;15643297;7901282;34899688;32113979 False 3 100;0;0 8.99 False ENSG00000166278 ENSG00000166278 HGNC:1248 C2orf69 gene C2orf69 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 33945503;34038740 False 3 100;0;0 8.99 False ENSG00000178074 ENSG00000178074 HGNC:26799 C3 gene C3 ESID Registry 20171117;Expert Review Green;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 C3 deficiency, 613779;Complement component 3 deficiency;Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations;Atypical hemolytic-uremic syndrome, dense deposit disease;Complement Deficiencies 15781264;1350678;1976733;4117597 False 3 100;0;0 8.99 False ENSG00000125730 ENSG00000125730 HGNC:1318 C4A gene C4A ESID Registry 20171117;Expert Review Green;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 C4a deficiency, 614380;Complement component 4 deficiency;Immunodeficiency due to a classical component pathway complement deficiency;SLE predisposition;infections with encapsulated organisms;SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense;Complement Deficiencies 15294999;2295875;22482068 False 3 100;0;0 8.99 False ENSG00000244731 ENSG00000244731 HGNC:1323 C4B gene C4B Expert Review Green;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 C4B deficiency, 614379;SLE predisposition;SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense;Complement Deficiencies 2355198;12626442;2788199;19062096;1569346 False 3 100;0;0 8.99 False ENSG00000224389 ENSG00000224389 HGNC:1324 C5 gene C5 ESID Registry 20171117;Expert Review Green;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 C5 deficiency, 609536;Complement component 5 deficiency;Susceptibility to invasive bacterial infection, especially meningococcal;Disseminated neisserial infections;Complement Deficiencies 7730648;19375167;25534848 False 3 100;0;0 8.99 False ENSG00000106804 ENSG00000106804 HGNC:1331 C6 gene C6 ESID Registry 20171117;Expert Review Green;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 C6 deficiency, 612446;Complement component 6 deficiency;Susceptibility to invasive bacterial infection, especially meningococcal;Disseminated neisserial infections;Complement Deficiencies 8690922;9472666;12653841 False 3 100;0;0 8.99 False ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 ESID Registry 20171117;Expert Review Green;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 C7 deficiency, 610102;Complement component 7 deficiency;Susceptibility to invasive bacterial infection, especially meningococcal;Disseminated neisserial infections;Complement Deficiencies 7762578;9844043;16771861;15554930 False 3 100;0;0 8.99 False ENSG00000112936 ENSG00000112936 HGNC:1346 C8A gene C8A ESID Registry 20171117;Expert Review Green;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 C8 deficiency, type I, 613790;Complement component 8 deficiency;Susceptibility to invasive bacterial infection, especially meningococcal;Disseminated neisserial infections;Complement Deficiencies 9759902 False 3 100;0;0 8.99 False ENSG00000157131 ENSG00000157131 HGNC:1352 C8B gene C8B ESID Registry 20171117;Expert Review Green;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 C8 deficiency, type II, 613789;Complement component 8 deficiency;Susceptibility to invasive bacterial infection, especially meningococcal;Disseminated neisserial infections;Complement Deficiencies 8098723;27183977;9476133;19434484 False 3 100;0;0 8.99 False ENSG00000021852 ENSG00000021852 HGNC:1353 C9 gene C9 ESID Registry 20171117;Expert Review Green;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 C9 deficiency, 613825;Complement component 9 deficiency;Susceptibility to invasive bacterial infection, especially meningococcal;Mild susceptibility to disseminated neisserial infections;Complement Deficiencies 9144525;9634479;9570574;10072634 False 3 100;0;0 8.99 False ENSG00000113600 ENSG00000113600 HGNC:1358 CARD11 gene CARD11 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 11A, 615206 (AR);CARD11 deficiency;Predominantly antibody deficiencies;Atypical Severe Combined Immunodeficiency (Atypical SCID);Combined immunodeficiency;Autoimmune lymphoproliferative syndrome (ALPS);B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452;immunodeficiency 11B with atopic dermatitis (AD), 617638;Severe atopy, recurrent infections;Combined immunodeficiencies with associated or syndromic features;Splenomegaly, lymphadenopathy, poor vaccine response;Predominantly Antibody Deficiencies;Pneumocystis jirovecii pneumonia, bacterial and viral infections;Immunodeficiencies affecting cellular and humoral immunity 29074947;30170123;28628108;23129749;25352053;23374270;23561803;26289640;28826773 False 3 75;25;0 8.99 False Other - please provide details in the comments ENSG00000198286 ENSG00000198286 HGNC:16393 CARD14 gene CARD14 ESID Registry 20171117;Expert Review Green;GRID V2.0;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, NOT imprinted Pityriasis rubra pilaris, OMIM:173200;Psoriasis 2, OMIM:602723;Autoinflammatory Disorders 22521418;30248356;23648549;29689250;22703878;29980436;23067081;29704870;23711932 False 3 75;25;0 8.99 False ENSG00000141527 ENSG00000141527 HGNC:16446 CARD9 gene CARD9 ESID Registry 20171117;Expert Review Green;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 Candidiasis, familial, 2;212050;CARD9 deficiency;Predisposition to invasive fungal disease due to CARD9 deficiency;Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections;Defects in Intrinsic and Innate Immunity 19864672;23335372;24131138 False 3 100;0;0 8.99 False ENSG00000187796 ENSG00000187796 HGNC:16391 CARMIL2 gene CARMIL2 ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;warts, molluscum contagiosum, and T cell dysfunction;EBV+ disseminated smooth muscle tumours;Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy;Diseases of Immune Dysregulation 27647349;27896283;28112205;29479355 False 3 100;0;0 8.99 False ENSG00000159753 ENSG00000159753 HGNC:27089 CASP8 gene CASP8 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Caspase-8 deficiency state;CEDS;Immunodeficiency due to CASP8 deficiency;Caspase 8 deficiency;Autoimmune lymphoproliferative syndrome (ALPS);?Autoimmune lymphoproliferative syndrome, type IIB, 607271;Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia;Diseases of Immune Dysregulation 12353035;20301287;16157684;24240292;15492869 False 3 100;0;0 8.99 False ENSG00000064012 ENSG00000064012 HGNC:1509 CBLB gene CBLB Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 3, OMIM:620430 36006710 False 3 67;0;33 8.99 False ENSG00000114423 ENSG00000114423 HGNC:1542 CCBE1 gene CCBE1 Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510;Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features;Combined immunodeficiencies with associated or syndromic features 19911200;24913602;19935664 False 3 100;0;0 8.99 False ENSG00000183287 ENSG00000183287 HGNC:29426 CD19 gene CD19 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Immunodeficiency, common variable, 3 613493;hypogammaglobulinemia;Immunodeficiency, common variable, 3;Common variable immunodeficiency disorders (CVID);Isolated IgG subclass deficiency;Recurrent infections, may have glomerulonephritis;Predominantly Antibody Deficiencies 16672701;21330302;21159371 False 3 100;0;0 8.99 False ENSG00000177455 ENSG00000177455 HGNC:1633 CD247 gene CD247 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal T-B+ severe combined immunodeficiency due to CD3zeta;?Immunodeficiency 25;T-B+ SCID;Immunodeficiency 25, 610163;Atypical Severe Combined Immunodeficiency (Atypical SCID);Severe combined immunodeficiency (SCID);Nl NK, no g/d T cells;Immunodeficiencies affecting cellular and humoral immunity 26690594;26542031;17170122;27555457;25688246;16672702;https://doi.org/10.14785/lpsn-2014-0012 False 3 20;40;40 8.99 False ENSG00000198821 ENSG00000198821 HGNC:1677 CD27 gene CD27 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2;Combined immunodeficiency with EBV-associated lymphoproliferation;Combined immunodeficiency;CD27 deficiency;Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma;Diseases of Immune Dysregulation 25843314;22801960;22197273 False 3 100;0;0 8.99 False ENSG00000139193 ENSG00000139193 HGNC:11922 CD3D gene CD3D ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 19;Severe Combined Immune Deficiency;Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;T-B+ SCID;CD3d deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Severe combined immunodeficiency (SCID);Nl NK, no g/d T cells;Immunodeficiencies affecting cellular and humoral immunity 14602880;21926461;15546002 False 3 100;0;0 8.99 False ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 18, SCID variant;Severe Combined Immune Deficiency;Immunodeficiency due to defect in CD3-epsilon;T-B+ SCID;CD3e deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Severe combined immunodeficiency (SCID);Nl NK, no g/d T cells;Immunodeficiencies affecting cellular and humoral immunity 15546002;8490660 False 3 100;0;0 8.99 False ENSG00000198851 ENSG00000198851 HGNC:1674 CD3G gene CD3G ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 17, CD3 gamma deficient 615607;CD3z deficiency;Combined immunodeficiency;N/A;Immunodeficiencies affecting cellular and humoral immunity 29653965;17277165;1635567;24910257 False 3 100;0;0 8.99 False ENSG00000160654 ENSG00000160654 HGNC:1675 CD4 gene CD4 ESID Registry 20171117;Expert Review Green;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 79, OMIM:619238;OKT4 epitope deficiency, OMIM:613949 31781092;33471124 False 3 33;50;17 8.99 False ENSG00000010610 ENSG00000010610 HGNC:1678 CD40 gene CD40 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3;HIGM3;CD40 deficiency;CSR defects and Hyper IgM (HIGM) syndromes;Hyper-IgM syndrome due to CD40 deficiency;non-X-linked hyper IgM syndrome;Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections;Immunodeficiencies affecting cellular and humoral immunity 11675497;20301287;12584544;24122029;17502893 False 3 100;0;0 8.99 False ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM;CD40 ligand deficiency;CSR defects and Hyper IgM (HIGM) syndromes;Hyper-IGM immunodeficiency, X-linked;XHIM;Hyper-IGM syndrome;HIGM;IHIS;Immunodeficiency 3;IMD3;Hyper-IgM syndrome due to CD40 ligand deficiency;Hyper-IgM syndrome due to CD40L deficiency;Hyper-IgM syndrome type 1;HIGM1;Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections;Immunodeficiencies affecting cellular and humoral immunity 11875495;7678782;7679801;27189378;8094231;20301576;27697500;19931163;17146684;7882172;25840720;7586644;7679206 False 3 100;0;0 8.99 False ENSG00000102245 ENSG00000102245 HGNC:11935 CD46 gene CD46 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922;Membrane Cofactor Protein (CD46) deficiency;atypical HUS;Atypical hemolytic-uremic syndrome, infections, preeclampsia;Complement Deficiencies 14615110;14566051;16621965 False 3 100;0;0 8.99 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD55 gene CD55 ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Decay-accelerating factor for complement deficiency (DAF CD55);protein-losing enteropathy;hypogammaglobulinaemia;angiopathic thrombosis;primary intestinal lymphangiectasia;Protein losing enteropathy, thrombosis;Complement Deficiencies 28657829 False 3 100;0;0 8.99 False ENSG00000196352 ENSG00000196352 HGNC:2665 CD59 gene CD59 ESID Registry 20171117;Expert Review Green;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 Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300;CD59 antigen P18-20 deficiency (CD59);Membrane Attack Complex Inhibitor (CD59) deficiency;Primary CD59 deficiency;paroxysmal nocturnal haemoglobinuria;chronic hemolysis;childhood relapsing immune-mediated polyneuropathy;Hemolytic anemia, polyneuropathy;Complement Deficiencies 1382994;23149847;24382084;1699124;25716358 False 3 100;0;0 8.99 False ENSG00000085063 ENSG00000085063 HGNC:1689 CD70 gene CD70 ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;CD70-deficiency;EBV-related malignancy;EBV susceptibility, Hodgkin lymphoma;Diseases of Immune Dysregulation 28011864;28011863;29434583 False 3 100;0;0 8.99 False ENSG00000125726 ENSG00000125726 HGNC:11937 CD79A gene CD79A A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Agammaglobulinemia 3, 613501;Agammaglobulinemia 3;Agammaglobulinemia;CD79A deficiency;Agammaglobulinemia with autosomal recessive inheritance (ARA);Severe bacterial infections, normal numbers of pro-B cells;Predominantly Antibody Deficiencies 10525050;11920841;24481606;29335801;24909997;19302039 False 3 83;0;17 8.99 False ENSG00000105369 ENSG00000105369 HGNC:1698 CD79B gene CD79B A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Agammaglobulinemia 6, 612692;Agammaglobulinemia 6;Agammaglobulinemia;CD79B deficiency, Agammaglobulinemia with autosomal recessive inheritance (ARA);Severe bacterial infections, normal numbers of pro-B cells;Predominantly Antibody Deficiencies 17675462;17709424;24722855 False 3 80;0;20 8.99 False ENSG00000007312 ENSG00000007312 HGNC:1699 CD81 gene CD81 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, OMIM:613496 27250108;14530327;20237408;32048120;32086639;35849269 False 3 40;60;0 8.99 False ENSG00000110651 ENSG00000110651 HGNC:1701 CDC42 gene CDC42 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal-onset cytopaenia with dyshaematopoiesis;autoinflammation;rash;HLH 31601675;32303876;32231661;31271789 False 3 100;0;0 8.99 False ENSG00000070831 ENSG00000070831 HGNC:1736 CDCA7 gene CDCA7 Expert Review Green;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome;ICF;Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910;ICF3;immunodeficiency, centromeric instability, facial anomalies syndrome type 3;recurrent respiratory infections;hypogammaglobulinaemia;enteropathy;Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16;Combined immunodeficiencies with associated or syndromic features 29339483;28128455;27328760;26216346;29659838;15952214;1999836;26216346 False 3 100;0;0 8.99 False ENSG00000144354 ENSG00000144354 HGNC:14628 CEBPE gene CEBPE ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Specific granule deficiency, OMIM:245480;CCAAT/enhancer binding protein epsilon deficiency (CEBPE);Recurrent infection due to specific granule deficiency;Neutrophil lactoferrin deficiency;Neutrophils with bilobed nuclei;Congenital defects of phagocyte number or function 10359588;11313242;29651288 False 3 100;0;0 8.99 False ENSG00000092067 ENSG00000092067 HGNC:1836 CFD gene CFD ESID Registry 20171117;Expert Review Green;GRID V2.0;Inherited complement deficiency v0.11;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 Complement factor D deficiency, 613912;Complement factor D deficiency;Factor D deficiency;Recurrent Neisseria infections due to factor D deficiency;Neisserial infections;Complement Deficiencies 11457876;16527897;11457876;6568950;29522842 False 3 100;0;0 8.99 False ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH ESID Registry 20171117;Expert Review Green;GRID V2.0;Inherited complement deficiency v0.11;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 factor H deficiency, 609814;Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease;Complement Deficiencies 7742208;9312129;10803850;2966809;14978182;16612335;1701856;24722444 False 3 100;0;0 8.99 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI ESID Registry 20171117;Expert Review Green;GRID V2.0;Inherited complement deficiency v0.11;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 Complement factor I deficiency, 610984;{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923;{Macular degeneration, age-related, 13, susceptibility to}, 615439;Complement factor I deficiency;C3b inactivator deficiency;Factor I deficiency;Immunodeficiency with factor I anomaly;Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia;Complement Deficiencies 8613545;3897024;12562389;8613545;27091480;25988862;22710145;21316765;18374984;19065647;22710145;24142231 False 3 100;0;0 8.99 False ENSG00000205403 ENSG00000205403 HGNC:5394 CFP gene CFP ESID Registry 20171117;Expert Review Green;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Properdin deficiency;Properdin P factor complement deficiency (PFC);Neisserial infections;Complement Deficiencies 8530058;10909851;7151327;22229731;6903190 False 3 100;0;0 8.99 False ENSG00000126759 ENSG00000126759 HGNC:8864 CHD7 gene CHD7 ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charge syndrome;CHARGE syndrome, 214800;Immunodeficiency;COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES;Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs;Combined immunodeficiencies with associated or syndromic features 29159871;22461308;29531775;21378379;15300250;25689927;26563674;26544072;26544072;26563674;18976358;19403480;19187738;18505430;20052490 False 3 100;0;0 8.99 False ENSG00000171316 ENSG00000171316 HGNC:20626 CIB1 gene CIB1 Expert list;Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal "Epidermodysplasia verruciformis 3 618267;HPV infections and cancer of the skin" 30068544 False 3 100;0;0 8.99 False ENSG00000185043 ENSG00000185043 HGNC:16920 CIITA gene CIITA Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group A;Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome);HLA class II deficiency;Respiratory and gastrointestinal infections, liver/biliary tract disease;Immunodeficiencies affecting cellular and humoral immunity 8402893;11862382;9099848 False 3 100;0;0 8.99 False ENSG00000179583 ENSG00000179583 HGNC:7067 CLPB gene CLPB Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 25597510;25597511;25650066;26916670;28687938;34140661 False 3 100;0;0 8.99 False ENSG00000162129 ENSG00000162129 HGNC:30664 COL7A1 gene COL7A1 Expert Review;Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Inflammatory Bowel Disease;Dystrophic Epidermolysis Bullosa Pruriginosa 32084423;33346580;23517353;11781296;18363753;27537055 False 3 33;67;0 8.99 False ENSG00000114270 ENSG00000114270 HGNC:2214 COPA gene COPA Expert Review Green;GRID V2.0;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 {Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414 28956095;25894502;29137621;38175705 False 3 100;0;0 8.99 False ENSG00000122218 ENSG00000122218 HGNC:2230 CORO1A gene CORO1A Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8;Combined immunodeficiency;hypogammaglobulinaemia, combined immunodeficiency;Coronin-1A deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Severe combined immunodeficiency (SCID);Omenn syndrome;Detectable thymus, EBV;Immunodeficiencies affecting cellular and humoral immunity 23522482;19097825;18836449;25073507 False 3 100;0;0 8.99 False ENSG00000102879 ENSG00000102879 HGNC:2252 CR2 gene CR2 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;NHS GMS;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency, common variable, 7, OMIM:614699 22035880;26325596 False 3 67;17;17 8.99 False ENSG00000117322 ENSG00000117322 HGNC:2336 CREBBP gene CREBBP Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 1, OMIM:180849 32594341 False 3 100;0;0 8.99 False ENSG00000005339 ENSG00000005339 HGNC:2348 CSF2RA gene CSF2RA ESID Registry 20171117;Expert Review Green;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 Surfactant metabolism dysfunction, pulmonary 4, 300770;Congenital pulmonary alveolar proteinosis;hypersensitivity;Pulmonary alveolar proteinosis;Alveolar proteinosis;Congenital defects of phagocyte number or function 18955567;18955570;1972780;23632888 False 3 100;0;0 8.99 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5, 614370;Alveolar proteinosis;Congenital defects of phagocyte number or function 9410898;21205713;21075760 False 3 80;0;20 8.99 False ENSG00000100368 ENSG00000100368 HGNC:2436 CSF3R gene CSF3R Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014;Congenital defects of phagocyte number or function 24753537;26324699;29070147;19620628 False 3 80;0;20 8.99 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTLA4 gene CTLA4 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GRID V2.0;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, NOT imprinted CVID;hypogammaglobulinaemia;lymphadenopathy;T cell lymphopenia;enteropathy;interstitual lung disease;autoimmunity;Autoimmune lymphoproliferative syndrome, type V 616100;Autoimmune lymphoproliferative syndrome, type V;Combined immunodeficiency;Early-onset multi-organ autoimmune disease;Immune dysregulation;a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation;Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections;Diseases of Immune Dysregulation 25213377;25329329;29729943 False 3 100;0;0 8.99 False ENSG00000163599 ENSG00000163599 HGNC:2505 CTPS1 gene CTPS1 Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 24, 615897;Severe combined immunodeficiency due to CTPS1 deficiency;Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH );Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma;Diseases of Immune Dysregulation 26424649;17576681;27638562;9536098;29884857;24870241 False 3 100;0;0 8.99 False ENSG00000171793 ENSG00000171793 HGNC:2519 CTSC gene CTSC ESID Registry 20171117;Expert Review Green;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 Papillon-Lefevre syndrome, 245000;Periodontitis, palmoplantar hyperkeratosis in some patients;Congenital defects of phagocyte number or function;Severe periodontitis;palmoplantar keratoderma;Haim-Munk syndrome, 245010 10593994;10662807;11106356 False 3 100;0;0 8.99 False ENSG00000109861 ENSG00000109861 HGNC:2528 CXCR2 gene CXCR2 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal WHIM syndrome 2, OMIM:619407 24777453 False 3 60;0;40 8.99 False ENSG00000180871 ENSG00000180871 HGNC:6027 CXCR4 gene CXCR4 Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WHIM syndrome, 193670;Myelokathexis, isolated;WHIM syndrome;Warts hypogammaglobulinemia infections and myelokathexis (WHIM);Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia;Defects in Intrinsic and Innate Immunity 12692554;15536153 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121966 ENSG00000121966 HGNC:2561 CYBA gene CYBA ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690;Chronic granulomatous disease (CGD);Infections, autoinflammatory phenotype;Congenital defects of phagocyte number or function 2243141;1415254;18422995;12073015;10759707 False 3 100;0;0 8.99 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Immunodeficiency 34, mycobacteriosis, X-linked, 300645;Chronic granulomatous disease, X-linked, 306400;Chronic granulomatous disease (CGD);Defects with susceptibility to mycobacterial infection (MSMD);Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus;Congenital defects of phagocyte number or function;Isolated susceptibility to mycobacteria;Defects in Intrinsic and Innate Immunity 2556453;1710153;17293536 False 3 100;0;0 8.99 False ENSG00000165168 ENSG00000165168 HGNC:2578 DBR1 gene DBR1 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal DBR1 deficiency;Defects in intrinsic and innate immunity;HSE of the brainstem. Other viral infections of the brainstem 32086639;32048120 False 3 100;0;0 8.99 False ENSG00000138231 ENSG00000138231 HGNC:15594 DCLRE1C gene DCLRE1C Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type;Severe combined immunodeficiency, Athabascan type, 602450;T-B- SCID;T-B+ SCID;Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation;DCLRE1C (Artemis) deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Combined immunodeficiency;Omenn syndrome;Severe combined immunodeficiency (SCID);Nl NK, radiation sensitive;Immunodeficiencies affecting cellular and humoral immunity 32092471;11336668;12569164;10416610;26476407;24144642;31393046;12406895;12055248;16540517;15731174 False 3 100;0;0 8.99 False ENSG00000152457 ENSG00000152457 HGNC:17642 DEF6 gene DEF6 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 87 and autoimmunity, OMIM:619573;Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections 31308374;32086639;32048120;32562707 False 3 33;67;0 8.99 False ENSG00000023892 ENSG00000023892 HGNC:2760 DIAPH1 gene DIAPH1 Expert Review;Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, OMIM:616632 33662367 False 3 100;0;0 8.99 False ENSG00000131504 ENSG00000131504 HGNC:2876 DKC1 gene DKC1 ESID Registry 20171117;Expert Review Green;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked 305000;Hoyeraal-Hreidarsson syndrome;Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, recurrent infections;Severe phenotype with DD and cerebellar hypoplasia;Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients;Combined immunodeficiencies with associated or syndromic features 9590285;9590276;10217077;10583221 False 3 100;0;0 8.99 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 3, 617052;Shwachman-Diamond syndrome-like;Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure;Congenital defects of phagocyte number or function 27346687;29700810;28062395 False 3 75;25;0 8.99 False ENSG00000168724 ENSG00000168724 HGNC:27030 DNASE1L3 gene DNASE1L3 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Systemic lupus erythematosus 16, 614420;Diseases of Immune Dysregulation;Autoinflammatory Disorders;Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis;familial early-onset SLE 27821515;23666765;22019780;32086639;32048120 False 3 20;80;0 8.99 False ENSG00000163687 ENSG00000163687 HGNC:2959 DNASE2 gene DNASE2 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopenia syndrome, OMIM:619858 29259162;31775019 False 3 75;25;0 8.99 False ENSG00000105612 ENSG00000105612 HGNC:2960 DNMT3B gene DNMT3B A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860;Immunodeficiency-centromeric instability-facial anomalies syndrome 1;Immunodeficiency centromeric instability facial anomalies syndrome (ICF);Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16;Combined immunodeficiencies with associated or syndromic features 10647011 False 3 100;0;0 8.99 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK11 gene DOCK11 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoinflammatory disease, multisystem, with immune dysregulation, X-linked, OMIM:301109 36952639;37342957 False 3 100;0;0 8.99 False ENSG00000147251 ENSG00000147251 HGNC:23483 DOCK2 gene DOCK2 Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Dock 2 deficiency, Immunodeficiency 40;Immunodeficiency 40, 616433;Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells;Immunodeficiencies affecting cellular and humoral immunity 26083206;29503648;29204803;28694805 False 3 100;0;0 8.99 False ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK8 gene DOCK8 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700;Hyper-IgE recurrent infection syndrome;impaired T cell function, Atopy, cutaneous viral infections;Combined immunodeficiency;Hyper IgE syndrome (HIES);Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis;Immunodeficiencies affecting cellular and humoral immunity 25724123;20004785;25627830;19776401 False 3 100;0;0 8.99 False ENSG00000107099 ENSG00000107099 HGNC:19191 DPP9 gene DPP9 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hatipoglu immunodeficiency syndrome, OMIM:620331 36112693 False 3 100;0;0 8.99 False ENSG00000142002 ENSG00000142002 HGNC:18648 DUT gene DUT Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Bone marrow failure and diabetes mellitus syndrome, OMIM:620044 28073829;35611808;35931051 False 3 50;50;0 8.99 False ENSG00000128951 ENSG00000128951 HGNC:3078 EFL1 gene EFL1 Expert list;Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 2, OMIM:617941 28331068;31151987 False 3 100;0;0 8.99 False ENSG00000140598 ENSG00000140598 HGNC:25789 ELANE gene ELANE Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neutropenia, cyclic, 162800;Neutropenia, severe congenital 1, autosomal dominant, 202700;Neutropenia, severe congenital 1;Congenital neutropenia;Cyclic neutropenia;Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia;Congenital defects of phagocyte number or function False 3 100;0;0 8.99 False ENSG00000197561 ENSG00000197561 HGNC:3309 ELF4 gene ELF4 A- or hypo-gammaglobulinaemia v1.25;Expert Review Green;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, OMIM:301074 16264330;34326534;35266071;36823308;38231408;38773005;39563044;39976696 False 3 50;0;50 8.99 False ENSG00000102034 ENSG00000102034 HGNC:3319 EP300 gene EP300 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rubinstein-Taybi syndrome 2, OMIM:613684 32594341 False 3 100;0;0 8.99 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPG5 gene EPG5 Combined B and T cell defect v1.12;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840;Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum;Vici syndrome;syndromic phenotype (immunodeficiency variable);Vici syndrome due to EPG5 deficiency;Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis;Combined immunodeficiencies with associated or syndromic features 23674064;28624465;26917586;28168853;26395118;23222957;23838600;25331754 False 3 100;0;0 8.99 False ENSG00000152223 ENSG00000152223 HGNC:29331 ERCC6L2 gene ERCC6L2 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, 615715;Facial dysmorphism, microcephaly, bone marrow failure;Combined immunodeficiencies with associated or syndromic features 24507776;27185855 False 3 100;0;0 8.99 False ENSG00000182150 ENSG00000182150 HGNC:26922 EXTL3 gene EXTL3 A- or hypo-gammaglobulinaemia v1.25;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 28148688;28132690 False 3 100;0;0 8.99 False ENSG00000012232 ENSG00000012232 HGNC:3518 F12 gene F12 Expert Review Green;GRID V2.0;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angioedema, hereditary, 3, OMIM:610618 16638441;17186468;19178938 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000131187 ENSG00000131187 HGNC:3530 FADD gene FADD ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759;ALPS-like disease;functional hyposplenism;invasive pneumococcal disease;para-infectious encephalopathy and hepatopathy;cardiovascular malformations;Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction;Diseases of Immune Dysregulation 18070632;17656375;25794656;21109225 False 3 100;0;0 8.99 False ENSG00000168040 ENSG00000168040 HGNC:3573 FAS gene FAS ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome type IA, 601859;Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS);Autoimmune lymphoproliferative syndrome (ALPS);Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12;Diseases of Immune Dysregulation 26258116;10709732;15459302;28668589;8806292;16537120;16394653;7540117;26907631;9927496;9028321;8929361;9821419;25451160;22857792;7511063;22983577 False 3 100;0;0 8.99 False ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IB, OMIM:601859;autoimmune lymphoproliferative syndrome type 1, MONDO:0011158;systemic lupus erythematosus (SLE) 16627752;8787672;20301287;17605793;27848183;25451160;22857792;7511063 False 3 100;0;0 8.99 False ENSG00000117560 ENSG00000117560 HGNC:11936 FAT4 gene FAT4 Expert Review Green;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 BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2, 616006;Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features;Combined immunodeficiencies with associated or syndromic features 29681106;22473091;22469822;25616299;24056717;24913602 False 3 100;0;0 8.99 False ENSG00000196159 ENSG00000196159 HGNC:23109 FCHO1 gene FCHO1 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis;FCHO1 deficiency;Immunodeficiencies affecting cellular and humoral immunity 32086639;30822429;32048120 False 3 50;50;0 8.99 False ENSG00000130475 ENSG00000130475 HGNC:29002 FERMT1 gene FERMT1 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling;Kindler syndrome, 173650;Diseases of Immune Dysregulation;Kindler syndrome, OMIM:173650;FERMT1 deficiency (Kindler syndrome) 32086639;32048120;21936020 False 3 50;50;0 8.99 False ENSG00000101311 ENSG00000101311 HGNC:15889 FERMT3 gene FERMT3 ESID Registry 20171117;Expert Review Green;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 Leukocyte adhesion deficiency, type III, 612840;LAD;LAD type 1 plus bleeding tendency;Congenital defects of phagocyte number or function 17185466;12511588;19234463;20357244;21441448;27749372;26729028 False 3 100;0;0 8.99 False ENSG00000149781 ENSG00000149781 HGNC:23151 FNIP1 gene FNIP1 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Primary Immunodeficiency;Agammaglobulinemia;Hypertrophic Cardiomyopathy;Neutropenia 32181500;32905580 False 3 50;50;0 8.99 False ENSG00000217128 ENSG00000217128 HGNC:29418 FOXN1 gene FOXN1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR);T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD);T-B+ SCID;Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect;Combined immunodeficiencies with associated or syndromic features 11159512;29593714;21507891;10206641;28636882;15180707;28077132;31447097 False 3 60;20;20 8.99 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP3 gene FOXP3 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790;IPEX;FOXP3 deficiency (IPEX);Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome;Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA;Diseases of Immune Dysregulation 11295725;29241729;30443250;17635943;18951619;11120765;16741580;14671208 False 3 100;0;0 8.99 False ENSG00000049768 ENSG00000049768 HGNC:6106 G6PC3 gene G6PC3 Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 Neutropenia, severe congenital 4, autosomal recessive, 612541;Dursun syndrome, 612541;Severe Congenital Neutropenia;Neutropenia, severe congenital 4;Congenital neutropenia;Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs;Congenital defects of phagocyte number or function 19118303;20616219 False 3 100;0;0 8.99 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Glucose-6-phosphate dehydrogenase deficiency (G6PD);haemolytic anaemia;chronic granulomatous disease-like susceptibility to infection;Infections;Congenital defects of phagocyte number or function 27458052;27914961;12130518;3681550 False 3 100;0;0 8.99 False ENSG00000160211 ENSG00000160211 HGNC:4057 GATA1 gene GATA1 Congenital neutropaenia v1.22;Expert Review Green;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835;thrombocytopenia;dyserythropoietic anaemia;neutropenia 16783379;22706301 False 3 100;0;0 8.99 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 21,614172;Monocytopenia and mycobacterial infection (MonoMAC);Congenital neutropenia;Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections;Monocytopenia with susceptibility to infections;Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema;Congenital defects of phagocyte number or function 21670465;2543925;21765025;29588856;29724903 False 3 100;0;0 8.99 False ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, nonimmune chronic idiopathic, of adults, 607847;Severe congenital 2, autosomal dominant, 613107;Neutropenia, severe congenital 2;Congenital neutropenia;Severe congenital neutropenia;Chronic non-immune neutropenia of adults;B/T lymphopenia;Congenital defects of phagocyte number or function False 3 100;0;0 8.99 False ENSG00000162676 ENSG00000162676 HGNC:4237 GINS1 gene GINS1 ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal GINS1 deficiency;intrauterine growth retardation;chronic neutropenia;NK cell deficiency;Immunodeficiency 55, 617827;Neutropenia, IUGR, NK cells very low;Combined immunodeficiencies with associated or syndromic features 28414293 False 3 100;0;0 8.99 False ENSG00000101003 ENSG00000101003 HGNC:28980 GNAI2 gene GNAI2 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodefficiency with multisystemic presentation 39298586 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000114353 ENSG00000114353 HGNC:4385 GUCY2C gene GUCY2C Expert Review Green;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 Diarrhea 6, 614616;meconium ileus, 614665;Diarrhea 6, OMIM:614616 22436048;31157858 False 3 20;60;20 8.99 False ENSG00000070019 ENSG00000070019 HGNC:4688 HAVCR2 gene HAVCR2 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal T-cell lymphoma, subcutaneous panniculitis-like, 618398;Tim-3 deficiency;Autoinflammatory Disorders 30792187;32086639;32048120;30374066 False 3 50;50;0 8.99 False ENSG00000135077 ENSG00000135077 HGNC:18437 HAX1 gene HAX1 Agranulocytosis v1.3;Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 Neutropenia, severe congenital 3, autosomal recessive, 610738;Severe congenital neutropenia;Neutropenia, severe congenital 3;Congenital neutropenia;Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia;Congenital defects of phagocyte number or function False 3 100;0;0 8.99 False ENSG00000143575 ENSG00000143575 HGNC:16915 HELLS gene HELLS Expert Review Green;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome;ICF;Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911;ICF4;Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16;Combined immunodeficiencies with associated or syndromic features 29339483;28128455;27328760;26216346;11711429;14517253;17726103;16395332 False 3 100;0;0 8.99 False ENSG00000119969 ENSG00000119969 HGNC:4861 HMOX1 gene HMOX1 Expert Review Green;IUIS Classification February 2018;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Heme oxygenase-1 deficiency, OMIM:614034;Hemolysis, nephritis, inflammation;Defects in Intrinsic and Innate Immunity;amyloidosis 9884342;21088618;22023467;26526137;33066778 False 3 50;25;25 8.99 False ENSG00000100292 ENSG00000100292 HGNC:5013 HPS1 gene HPS1 Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1;oculocutaneous albinism;bleeding;inflammatory bowel disease;pulmonary fibrosis 9562579 False 3 50;25;25 8.99 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, 614073 False 3 50;25;25 8.99 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, 614075 False 3 50;25;25 8.99 False ENSG00000166189 ENSG00000166189 HGNC:18817 HTRA2 gene HTRA2 Congenital neutropaenia v1.22;Expert Review Green;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, 617248;early onset neurological syndrome;neutropenia 27208207; 27696117 False 3 100;0;0 8.99 False ENSG00000115317 ENSG00000115317 HGNC:14348 HYOU1 gene HYOU1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 59 and hypoglycemia, OMIM:233600;Hypoglycemia, inflammatory complications;Congenital defects of phagocyte number or function 27913302;32048120;32086639;35549617;35822684 False 3 40;20;40 8.99 False ENSG00000149428 ENSG00000149428 HGNC:16931 ICOS gene ICOS A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 1;Immunodeficiency, common variable, 1, 607594;Common variable immunodeficiency disorders (CVID);Isolated IgG subclass deficiency;hypogammaglobulinaemia;gammaglobulinaemia;combined immunodeficiency;Recurrent infections, autoimmunity, gastroenteritis, granulomas;Immunodeficiencies affecting cellular and humoral immunity 10413651;26399252;25678089;29226301;19380800;28861081;15507387;24795713;12577056;29226302;29867948 False 3 100;0;0 8.99 False ENSG00000163600 ENSG00000163600 HGNC:5351 IFIH1 gene IFIH1 Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 7, OMIM:615846 (AD);Singleton-Merten syndrome 1, OMIM:182250 (AD);Susceptibility to RNA viruses (AR) 29018476;28716935;28606988 False 3 100;0;0 8.99 False Other - please provide details in the comments ENSG00000115267 ENSG00000115267 HGNC:18873 IFNAR1 gene IFNAR1 Expert Review;Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 106, susceptibility to viral infections, OMIM:619935;immunodeficiency 106, susceptibility to viral infections, MONDO:0030970 31270247;26676772;20020050;33252644;32960813;35442418;35091979 False 3 67;33;0 8.99 False ENSG00000142166 ENSG00000142166 HGNC:5432 IFNAR2 gene IFNAR2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 45, OMIM:616669 26424569;33193576;33544838;35442417;35944424 False 3 50;25;25 8.99 False ENSG00000159110 ENSG00000159110 HGNC:5433 IFNGR1 gene IFNGR1 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Immunodeficiency 27A, (AR) 209950;Immunodeficiency 27B, (AD) 615978;Mycobacteriosis;Defects with susceptibility to mycobacterial infection (MSMD);Susceptibility to mycobacteria and Salmonella;Defects in Intrinsic and Innate Immunity 8960473;8960475;9389728;9497247;9497247 False 3 100;0;0 8.99 False ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis, OMIM:614889 9616207;15924140;18625743;30264912;23161749 False 3 100;0;0 8.99 False ENSG00000159128 ENSG00000159128 HGNC:5440 IGHM gene IGHM A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 1, 601495;Agammaglobulinemia 1;Agammaglobulinemia;Severe bacterial infections, normal numbers of pro-B cells;Predominantly Antibody Deficiencies 8890099;12370281 False 3 100;0;0 8.99 False ENSG00000211899 ENSG00000211899 HGNC:5541 IGLL1 gene IGLL1 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Agammaglobulinemia 2, 613500;Agammaglobulinemia 2;Agammaglobulinemia;Severe bacterial infections, normal numbers of pro-B cells;Predominantly Antibody Deficiencies 9419212;25502423;27576013 False 3 100;0;0 8.99 False ENSG00000128322 ENSG00000128322 HGNC:5870 IKBKB gene IKBKB ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Immunodeficiency 15A, OMIM:618204 (AD);Immunodeficiency 15B, OMIM:615592 (AR);Combined immunodeficiency;Recurrent bacterial, viral, fungal infections, opportunistic infections;Immunodeficiencies affecting cellular and humoral immunity 30337470;25216719;24369075 False 3 80;20;0 8.99 False ENSG00000104365 ENSG00000104365 HGNC:5960 IKBKG gene IKBKG ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia and immunodeficiency 1, OMIM:300291;Immunodeficiency 33, OMIM:300636 16818673;11179023;16950813;15356572;11047757 False 3 100;0;0 8.99 False ENSG00000073009 ENSG00000269335 HGNC:5961 IKZF1 gene IKZF1 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 13, 616873;Immunodeficiency, common variable 13;IKAROS deficiency;Recurrent sinopulmonary infections;Predominantly Antibody Deficiencies 29889099;21548011;26981933 False 3 75;25;0 8.99 False ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF2 gene IKZF2 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233;Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234 34826260;34920454 False 3 100;0;0 8.99 False ENSG00000030419 ENSG00000030419 HGNC:13177 IKZF3 gene IKZF3 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 84, OMIM:619437 34155405;34694366 False 3 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 ENSG00000161405 ENSG00000161405 HGNC:13178 IL10 gene IL10 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Early-onset inflammatory bowel disease;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,;Diseases of Immune Dysregulation 19890111;20951137;22236434 False 3 100;0;0 8.99 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 28, early onset, autosomal recessive, 613148;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma;Diseases of Immune Dysregulation 22476154;29248579;19890111;21519361;29059189;29140941;28864178;22236434;29788474 False 3 100;0;0 8.99 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset, autosomal recessive,612567;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;IBD, folliculitis, recurrent respiratory diseases, arthritis, lymphoma;Diseases of Immune Dysregulation 22236434;27350736;27302973;19890111;21519361;28785144 False 3 100;0;0 8.99 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL12B gene IL12B ESID Registry 20171117;Expert Review Green;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 Immunodeficiency 29, mycobacteriosis, 614890;Defects with susceptibility to mycobacterial infection (MSMD);Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency;Susceptibility to mycobacteria and Salmonella;Defects in Intrinsic and Innate Immunity 9854038;11753820;15322986;24127073 False 3 100;0;0 8.99 False ENSG00000113302 ENSG00000113302 HGNC:5970 IL12RB1 gene IL12RB1 ESID Registry 20171117;Expert Review Green;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 Immunodeficiency 30, 614891;Defects with susceptibility to mycobacterial infection (MSMD);Susceptibility to mycobacteria and Salmonella;Defects in Intrinsic and Innate Immunity 9603733;11424023;15178580;15736007;12594833;21487897 False 3 100;0;0 8.99 False ENSG00000096996 ENSG00000096996 HGNC:5971 IL17RA gene IL17RA ESID Registry 20171117;Expert Review Green;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 Immunodeficiency 51, OMIM:613953 21350122;27930337;29076381;27930337 False 3 100;0;0 8.99 False ENSG00000177663 ENSG00000177663 HGNC:5985 IL17RC gene IL17RC Expert Review Green;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 Candidiasis, familial, 9 616445;Chronic Mucocutaneous Candidiasis;CMC;Defects in Intrinsic and Innate Immunity 25918342;29076381 False 3 100;0;0 8.99 False ENSG00000163702 ENSG00000163702 HGNC:18358 IL1RN gene IL1RN ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, OMIM:612852;Sterile multifocal osteomyelitis, periostitis, and pustulosis;DIRA;Autoinflammatory Disorders 19494219;22127713;19494218 False 3 100;0;0 8.99 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL21R gene IL21R ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56, OMIM:615207 23440042;12700598 False 3 100;0;0 8.99 False ENSG00000103522 ENSG00000103522 HGNC:6006 IL23R gene IL23R Expert list;Expert Review Green;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal inherited susceptibility to mycobacterial diseases, MONDO:0019146;chronic mucocutaneous candidiasis, MONDO:0015279 30578351;31953710;36763636 False 3 75;0;25 8.99 False ENSG00000162594 ENSG00000162594 HGNC:19100 IL2RA gene IL2RA ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Interleukin-2 receptor, alpha chain, deficiency of;Combined immunodeficiency;Omenn syndrome;Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype);Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367;Lymphoproliferation, autoimmunity, impaired T cell proliferation;Diseases of Immune Dysregulation 9096364;24116927;17196245;23416241 False 3 100;0;0 8.99 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal CD122 deficiency;Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections;Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495 32086639;31040185;32048120;31040184 False 3 50;50;0 8.99 False ENSG00000100385 ENSG00000100385 HGNC:6009 IL2RG gene IL2RG ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined immunodeficiency, X-linked, moderate;Severe combined immunodeficiency, X-linked;Severe combined immunodeficiency, X-linked, 300400;Severe Combined Immune Deficiency;T-B+ SCID;SCID;SCID (x-linked);Atypical Severe Combined Immunodeficiency (Atypical SCID);Omenn syndrome;Severe combined immunodeficiency (SCID);Low NK;Immunodeficiencies affecting cellular and humoral immunity 8712778;9921912;8462096;7668284 False 3 100;0;0 8.99 False ENSG00000147168 ENSG00000147168 HGNC:6010 IL36RN gene IL36RN ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Psoriasis 14, pustular, OMIM:614204;Autoinflammatory Disorders 23303454;21848462;23698098;22903787;21839423 False 3 100;0;0 8.99 False ENSG00000136695 ENSG00000136695 HGNC:15561 IL6R gene IL6R Expert Review Green;IUIS Classification December 2019;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal [Interleukin 6, serum level of, QTL] 614752;[Interleukin-6 receptor, soluble, serum level of, QTL] 614689;Hyper-IgE;Eczema;Recurrent infections;Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels;Combined immunodeficiencies with associated or syndromic features 31235509;32086639;32048120;31778705 False 3 33;67;0 8.99 False ENSG00000160712 ENSG00000160712 HGNC:6019 IL6ST gene IL6ST Expert Review Green;IUIS Classification December 2019;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752;?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750;Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523;Stuve-Wiedemann syndrome 2, OMIM:619751 31235509;32086639;30309848;28747427;32048120;32207811;12370259;16041381;31914175 False 3 75;25;0 8.99 False ENSG00000134352 ENSG00000134352 HGNC:6021 IL7 gene IL7 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency, MONDO:0015131 39352394 False 3 100;0;0 8.99 False ENSG00000104432 ENSG00000104432 HGNC:6023 IL7R gene IL7R ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type;Severe Combined Immune Deficiency;Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive;T-B+ SCID;IL7Ra deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Omenn syndrome;Severe combined immunodeficiency (SCID);Nl NK;Immunodeficiencies affecting cellular and humoral immunity 9843216 False 3 100;0;0 8.99 False ENSG00000168685 ENSG00000168685 HGNC:6024 IRAK4 gene IRAK4 ESID Registry 20171117;Expert Review Green;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 IRAK4 deficiency, 610799;Invasive pneumococcal disease, recurrent isolated, 1, 6107;Defects of TLR/NFkappa-B signalling;Defects with susceptibility to mycobacterial infection (MSMD);Bacterial infections (pyogens);Defects in Intrinsic and Innate Immunity 12637671;16950813;17114497;17878374;17878374 False 3 100;0;0 8.99 False ENSG00000198001 ENSG00000198001 HGNC:17967 IRF1 gene IRF1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 117, mycobacteriosis, autosomal recessive, OMIM:620668 36736301 False 3 100;0;0 8.99 False ENSG00000125347 ENSG00000125347 HGNC:6116 IRF2BP2 gene IRF2BP2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent infections, possible autoimmunity and inflammatory disease;CVID;Predominantly Antibody Deficiencies 32048120;27016798;32086639 False 3 75;0;25 8.99 False ENSG00000168264 ENSG00000168264 HGNC:21729 IRF4 gene IRF4 Expert list;Expert Review Green;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted combined immunodeficiency, MONDO:0015131 29537367;31953710;36662884;36917008 False 3 75;0;25 8.99 False ENSG00000137265 ENSG00000137265 HGNC:6119 IRF7 gene IRF7 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 39 , OMIM:616345 26761402;25814066;9315633;32048120;32086639 False 3 50;50;0 8.99 False ENSG00000185507 ENSG00000185507 HGNC:6122 IRF8 gene IRF8 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990;Defects with susceptibility to mycobacterial infection (MSMD);Susceptibility to mycobacteria;Defects in Intrinsic and Innate Immunity;Susceptibility to mycobacteria and multiple other infectious agents 21524210;25122610;27893462;22464253;22046141 False 3 100;0;0 8.99 False ENSG00000140968 ENSG00000140968 HGNC:5358 ISG15 gene ISG15 ESID Registry 20171117;Expert Review Green;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 Immunodeficiency 38, 616126;Defects with susceptibility to mycobacterial infection (MSMD);idiopathic basal ganglia calcification;Susceptibility to mycobacteria, brain calcifications;Defects in Intrinsic and Innate Immunity 22859821;25307056;23579383 False 3 100;0;0 8.99 False ENSG00000187608 ENSG00000187608 HGNC:4053 ITCH gene ITCH ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, 613385;Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED);Syndromic multisystem autoimmune disease due to Itch deficiency;Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features;Diseases of Immune Dysregulation 30705142;20962770;26854353;20170897;19592251;27322655 False 3 100;0;0 8.99 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGB2 gene ITGB2 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 Leukocyte adhesion deficiency, 116920;LAD;Leukocyte adhesion deficiency type I;Delayed cord separation, skin ulcers, periodontitis, leukocytosis;Congenital defects of phagocyte number or function 1968911;1694220;1346613;7472832 False 3 100;0;0 8.99 False ENSG00000160255 ENSG00000160255 HGNC:6155 ITK gene ITK Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 1;Combined immunodeficiency;ITK deficiency (HLH phenotype);EBV viraemia, HLH;EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG;Diseases of Immune Dysregulation 29867957;22289921;21109689;19425169 False 3 100;0;0 8.99 False ENSG00000113263 ENSG00000113263 HGNC:6171 ITPR3 gene ITPR3 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal combined immunodeficiency, MONDO:0015131 36302985;39270020 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000096433 ENSG00000096433 HGNC:6182 JAGN1 gene JAGN1 ESID Registry 20171117;Expert Review Green;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 Neutropenia, severe congenital;Congenital neutropenia;Neutropenia, severe congenital, 6, autosomal recessive,616022;severe congenital neutropenia;Myeloid maturation arrest, osteopenia;Congenital defects of phagocyte number or function 25129144 False 3 100;0;0 8.99 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK1 gene JAK1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999 28008925;28111307;30671064;32048120;32086639;32750333;34496019;35046931 False 3 75;0;25 8.99 False Other ENSG00000162434 ENSG00000162434 HGNC:6190 JAK3 gene JAK3 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type;Severe Combined Immune Deficiency;T-B+ SCID;Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative;JAK3 deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Omenn syndrome;Severe combined immunodeficiency (SCID);Low NK;Immunodeficiencies affecting cellular and humoral immunity 7481768;7659163 False 3 100;0;0 8.99 False ENSG00000105639 ENSG00000105639 HGNC:6193 KDM6A gene KDM6A Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2, OMIM:300867;Recurrent infections (otitis media, pneumonia);Autoimmunity;Combined immunodeficiencies with associated or syndromic features 25142838;15523604;32048120;25546742;15887282;32086639;26411453;22197486;23076834;31953710;31363182 False 3 50;50;0 8.99 False ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2A gene KMT2A ESID Registry 20171117;Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wiedemann-Steiner syndrome, OMIM:605130 27320412;28623346;33783954 False 3 33;33;33 8.99 False ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2D gene KMT2D Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1, OMIM:147920;Hypogammaglobulinemia;Recurrent infections (otitis media, pneumonia);Autoimmunity 25142838;15523604;21671394;32048120;15887282;21607748;32086639;23913813;26411453;31363182 False 3 50;0;50 8.99 False ENSG00000167548 ENSG00000167548 HGNC:7133 LACC1 gene LACC1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Juvenile arthritis, OMIM:618795 25220867;27881174;29717096;30872671 False 3 100;0;0 8.99 False ENSG00000179630 ENSG00000179630 HGNC:26789 LAMTOR2 gene LAMTOR2 ESID Registry 20171117;Expert Review Green;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 Immunodeficiency due to defect in MAPBP-interacting protein, 610798;Congenital neutropenia;Primary immunodeficiency syndrome due to p14 deficiency;Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure;Congenital defects of phagocyte number or function 17195838;24092934;22427693;28593997 False 3 80;20;0 8.99 False ENSG00000116586 ENSG00000116586 HGNC:29796 LAT gene LAT A- or hypo-gammaglobulinaemia v1.25;Combined B and T cell defect v1.12;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52, 617514;Adenopathy, splenomegaly, recurrent infections, autoimmunity;Immunodeficiencies affecting cellular and humoral immunity 27522155; 27242165 False 3 100;0;0 8.99 False ENSG00000213658 ENSG00000213658 HGNC:18874 LCK gene LCK ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 22, 615758;LCK deficiency;Combined immunodeficiency;Severe combined immunodeficiency due to LCK deficiency;Recurrent infections, immune dysregulation, autoimmunity;Immunodeficiencies affecting cellular and humoral immunity 22985903;11351273;9664084 False 3 100;0;0 8.99 False ENSG00000182866 ENSG00000182866 HGNC:6524 LCP2 gene LCP2 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 81, OMIM:619374 33231617;36474126;37211057 False 3 50;50;0 8.99 False ENSG00000043462 ENSG00000043462 HGNC:6529 LIG1 gene LIG1 Emory Genetics Laboratory;Expert Review;Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;Literature;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity;DNA-ligase 1 ATP-dependent deficiency (LIG1);DNA ligase I deficiency 30395541;1581963;32086639;32048120 False 3 25;50;25 8.99 False ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500;Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450;Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation;T-B- SCID;T-B+ SCID;LIG4 syndrome;Combined immunodeficiency;Severe combined immunodeficiency (SCID);DNA ligase IV deficiency;Nl NK, radiation sensitive, microcephaly;Immunodeficiencies affecting cellular and humoral immunity 20113890;16357942 False 3 100;0;0 8.99 False ENSG00000174405 ENSG00000174405 HGNC:6601 LPIN2 gene LPIN2 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628;Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders;Autoinflammatory Disorders 2809904;27252506;29387759;10969284;17330256;15994876;27860302 False 3 100;0;0 8.99 False ENSG00000101577 ENSG00000101577 HGNC:14450 LRBA gene LRBA ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity, 614700;Unclassified antibody deficiency;Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections;Diseases of Immune Dysregulation 26768763;25468195;25931386;22608502;22721650;26707784 False 3 100;0;0 8.99 False ENSG00000198589 ENSG00000198589 HGNC:1742 LYN gene LYN Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory disease, systemic, with vasculitis, OMIM:620376 36122175;36932076 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000254087 ENSG00000254087 HGNC:6735 LYST gene LYST ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome 214500;Chediak Higashi syndrome;Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction;Diseases of Immune Dysregulation 9215679;18043242;8717042;9215680;10482950;8896560;26944273;29939658 False 3 100;0;0 8.99 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAGT1 gene MAGT1 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853;Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function;XMEN syndrome;Immunodeficiency, X-linked, with magnesium defect;Epstein-Barr virus infection and neoplasia (XMEN);Combined immunodeficiency;EBV infection, lymphoma, viral infections, respiratory and GI infections;Diseases of Immune Dysregulation 25205404;27095930;25956530;23846901;21796205;25504528;29635109;23871722;21983175;24550228 False 3 100;0;0 8.99 False ENSG00000102158 ENSG00000102158 HGNC:28880 MALT1 gene MALT1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 12 615468;Combined immunodeficiency;Bacterial, fungal and viral infections;Immunodeficiencies affecting cellular and humoral immunity 25627829;23727036;24332264 False 3 100;0;0 8.99 False ENSG00000172175 ENSG00000172175 HGNC:6819 MAP3K14 gene MAP3K14 Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 112, OMIM:620449 29230214;25406581;29259025 False 3 100;0;0 8.99 False ENSG00000006062 ENSG00000006062 HGNC:6853 MCM4 gene MCM4 ESID Registry 20171117;Expert Review Green;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 Immunodeficiency 54, 609981;Natural killer cell and glucocorticoid deficiency with DNA repair defect;Predisposition to several viral infection;MCM4 deficiency;NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure;Combined immunodeficiencies with associated or syndromic features 22354167;22354170;22499342;16532402 False 3 80;20;0 8.99 False ENSG00000104738 ENSG00000104738 HGNC:6947 MCTS1 gene MCTS1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Inherited susceptibility to mycobacterial diseases, MONDO:0019146 37875108 False 3 100;0;0 8.99 False ENSG00000232119 ENSG00000232119 HGNC:23357 MECOM gene MECOM Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738;Hypocellular bone marrow;congenital thrombocytopenia;B-cell lymphopenia;hypogammaglobulinemia;radioulnar synostosis;digit abnormalities;clubfoot;cardiac defects;facial dysmorphism 37407873 False 3 100;0;0 8.99 False ENSG00000085276 ENSG00000085276 HGNC:3498 MEFV gene MEFV ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100;Neutrophilic dermatosis, acute febrile, OMIM:608068;Recurrent fever, serositis and inflammation responsive to colchicine;Predisposes to vasculitis and inflammatory bowel disease;Autoinflammatory Disorders 9288094;9668175;14679589;10090880;9266193;10787449;11903360;15643295;11242116 False 3 100;0;0 8.99 False ENSG00000103313 ENSG00000103313 HGNC:6998 MOGS gene MOGS Expert Review Green;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 Congenital disorder of glycosylation, type IIb 606056;Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb);Predominantly Antibody Deficiencies 29235540;10788335;24716661 False 3 100;0;0 8.99 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPEG1 gene MPEG1 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 77, OMIM:619223 33224153;33692780;28422754 False 3 100;0;0 8.99 False ENSG00000197629 ENSG00000197629 HGNC:29619 MSN gene MSN ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined immunodeficiency;Immunodeficiency 50, 300988;Recurrent infections with bacteria, varicella, neutropenia;Immunodeficiencies affecting cellular and humoral immunity 29556235;27405666 False 3 100;0;0 8.99 False ENSG00000147065 ENSG00000147065 HGNC:7373 MTHFD1 gene MTHFD1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780;Defects of Vitamin B12 and Folate metabolism;Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive;Combined immunodeficiencies with associated or syndromic features 27707659;25633902;21813566;9611072;12384833 False 3 100;0;0 8.99 False ENSG00000100714 ENSG00000100714 HGNC:7432 MVK gene MVK ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377;Periodic fever and leukocytosis with high IgD levels;Autoinflammatory Disorders 19011501;16435210;22038276;21708801;10369261 False 3 100;0;0 8.99 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYD88 gene MYD88 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260;Defects of TLR/NFkappa-B signalling;recurrent pyogenic bacterial infection;Bacterial infections (pyogens);Defects in Intrinsic and Innate Immunity 18669862;23215570 False 3 80;0;20 8.99 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYO5B gene MYO5B Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 18724368;19006234 False 3 80;0;20 8.99 False ENSG00000167306 ENSG00000167306 HGNC:7603 MYSM1 gene MYSM1 ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal MYSM1 deficiency;Bone marrow failure;neurodevelopmental delay;mid-face hypoplasia;immunodeficiency;Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.;Combined immunodeficiencies with associated or syndromic features 26474655;26220525;24288411;28446309;28115216;22184403 False 3 100;0;0 8.99 False ENSG00000162601 ENSG00000162601 HGNC:29401 NBN gene NBN ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome 251260;Nijmegen breakage syndrome (NBS1);Aplastic anemia 609135;Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability;Combined immunodeficiencies with associated or syndromic features 9590180;11325820;12447395;16415040 False 3 100;0;0 8.99 False ENSG00000104320 ENSG00000104320 HGNC:7652 NCF1 gene NCF1 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 Chronic granulomatous disease due to deficiency of NCF-1 233700;Chronic granulomatous disease (CGD);Infections, autoinflammatory phenotype;Congenital defects of phagocyte number or function 11133775;16972229;10706888 False 3 100;0;0 8.99 False ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 Chronic granulomatous disease due to deficiency of NCF-2 233710;Chronic granulomatous disease (CGD);Infections, autoinflammatory phenotype;Congenital defects of phagocyte number or function 7795241;9070911;10498624 False 3 100;0;0 8.99 False ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960;Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III;Chronic granulomatous disease (CGD);Infections, autoinflammatory phenotype;Congenital defects of phagocyte number or function 19692703;29969437 False 3 83;0;17 8.99 False ENSG00000100365 ENSG00000100365 HGNC:7662 NCKAP1L gene NCKAP1L Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency;Immune dysregulation 32647003;32766723 False 3 100;0;0 8.99 False ENSG00000123338 ENSG00000123338 HGNC:4862 NFAT5 gene NFAT5 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diseases of Immune Dysregulation;IBD, recurrent sinopulmonary infections;NFAT5 haploinsufficieny 32086639;25667416;32048120;36238298 False 3 60;0;40 8.99 False ENSG00000102908 ENSG00000102908 HGNC:7774 NFE2L2 gene NFE2L2 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown white matter cerebral lesions, increased level of homocysteine;Recurrent respiratory and skin infections, growth retardation, , developmental delay;Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744;NFE2L2 GOF;increased expression of stress response genes;Combined immunodeficiencies with associated or syndromic features;mmunodeficiency, developmental delay, and hypohomocysteinemia, 617744;Recurrent respiratory and skin infection;Growth retardation;Developmental delay, borderline ID;White matter cerebral lesions 32086639;32048120;29018201 False 3 50;50;0 8.99 False ENSG00000116044 ENSG00000116044 HGNC:7782 NFKB1 gene NFKB1 ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency, common variable, 12 616576;Common variable immunodeficiency disorders (CVID);Unclassified antibody deficiency;Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis;Predominantly Antibody Deficiencies 26279205;29477724 False 3 100;0;0 8.99 False ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency, common variable, 10 615577;Hypogammaglobuliaemia;immune dysregulation;central adrenal insufficiency;Common variable immunodeficiency disorders (CVID);Unclassified antibody deficiency;Recurrent sinopulmonary infections, alopecia and endorinopathies;Predominantly Antibody Deficiencies 24140114; 24888602; 25237204; 25524009 False 3 100;0;0 8.99 False ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA ESID Registry 20171117;Expert Review Green;GRID V2.0;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 Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132;Defects of TLR/NFkappa-B signalling;Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction;Combined immunodeficiencies with associated or syndromic features 15337789;23708964;18412279;17931563;28597146;28417298;14523047 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100906 ENSG00000100906 HGNC:7797 NHEJ1 gene NHEJ1 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291 16439204;20113890 False 3 100;0;0 8.99 False ENSG00000187736 ENSG00000187736 HGNC:25737 NHP2 gene NHP2 ESID Registry 20171117;Expert Review Green;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 Dyskeratosis congenita, autosomal recessive 2 613987;Dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome;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;Combined immunodeficiencies with associated or syndromic features 25182133;18523010;25907943;20301779;20008900 False 3 100;0;0 8.99 False ENSG00000145912 ENSG00000145912 HGNC:14377 NLRC4 gene NLRC4 Expert Review Green;GRID V2.0;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 Autoinflammation with infantile enterocolitis, OMIM:616050;?Familial cold autoinflammatory syndrome 4, OMIM:616115;Severe enterocolitis and macrophage activation syndrome;Autoinflammatory Disorders 27876626;25217959;25385754;25217960 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000091106 ENSG00000091106 HGNC:16412 NLRP1 gene NLRP1 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammation with arthritis and dyskeratosis, OMIM:617388;?Respiratory papillomatosis, juvenile recurrent, congenital, OMIM:618803;Palmoplantar carcinoma, multiple self-healing, OMIM:615225;{Vitiligo-associated multiple autoimmune disease susceptibility 1}, OMIM:606579 27662089;27965258;29850521;31484767;31873740 False 3 62;38;0 8.99 False Other ENSG00000091592 ENSG00000091592 HGNC:14374 NLRP12 gene NLRP12 Expert Review Green;GRID V2.0;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 Familial cold autoinflammatory syndrome 2, OMIM:611762;Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure;Preterm premature rupture of membranes (PPROM);Autoinflammatory Disorders 18230725;27633793;29178652;21360512;27779193;29248470 False 3 100;0;0 8.99 False ENSG00000142405 ENSG00000142405 HGNC:22938 NLRP3 gene NLRP3 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 CINCA syndrome, OMIM:607115;Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772;Familial cold inflammatory syndrome 1, OMIM:120100;Muckle-Wells syndrome, OMIM:191900 28847925;12522564;11590390;14872505;18423104;14476827;29366613;11992256;12032915;11687797 False 3 100;0;0 8.99 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOD2 gene NOD2 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 Blau syndrome, OMIM:186580;{Inflammatory bowel disease 1, Crohn disease}, OMIM:266600;{Yao syndrome}, OMIM:617321 11528384;25416713;4056967;25136265;15459013;19479837;18955195;28887115 False 3 100;0;0 8.99 False ENSG00000167207 ENSG00000167207 HGNC:5331 NPC1 gene NPC1 Expert list;Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease 26953272;33346580 False 3 100;0;0 8.99 False ENSG00000141458 ENSG00000141458 HGNC:7897 NSMCE3 gene NSMCE3 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241;Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity;Combined immunodeficiencies with associated or syndromic features 27427983 False 3 100;0;0 8.99 False ENSG00000185115 ENSG00000185115 HGNC:7677 NUDCD3 gene NUDCD3 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency, MONDO:0015974;Omenn syndrome, MONDO:0011338 38787962 False 3 100;0;0 8.99 False ENSG00000015676 ENSG00000015676 HGNC:22208 OAS1 gene OAS1 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042 29455859;32048120;34145065 False 3 75;25;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000089127 ENSG00000089127 HGNC:8086 ORAI1 gene ORAI1 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9 612782;T-B+ SCID;immunodeficiency, ectodermal dysplasia and myopathy;Combined immunodeficiency;Autoimmunity, EDA, non-progressive myopathy;Combined immunodeficiencies with associated or syndromic features 7798233;16582901;8814256;20004786 False 3 80;0;20 8.99 False ENSG00000182500 ENSG00000276045 HGNC:25896 OTULIN gene OTULIN Expert Review;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection}, OMIM:619986;Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 27523608;27559085;35587511 False 3 100;0;0 8.99 False ENSG00000154124 ENSG00000154124 HGNC:25118 PARN gene PARN Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6 616353;Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371;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;Combined immunodeficiencies with associated or syndromic features 25893599;25848748;26342108 False 3 100;0;0 8.99 False ENSG00000140694 ENSG00000140694 HGNC:8609 PAX1 gene PAX1 Expert list;Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2, 615560;Syndromic SCID;dysmorphism;ear abnormalities;otofaciocervical syndrome 32111619;28657137 False 3 100;0;0 8.99 False ENSG00000125813 ENSG00000125813 HGNC:8615 PEPD gene PEPD Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, 170100;Autoantibodies common, chronic skin ulcers, eczema, infections;Diseases of Immune Dysregulation 8900231;2365824;17142620;26110198;15309682;6637477;16470701;19308961;22726576;1972707 False 3 100;0;0 8.99 False ENSG00000124299 ENSG00000124299 HGNC:8840 PGM3 gene PGM3 ESID Registry 20171117;Expert Review Green;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 Immunodeficiency 23 615816;Combined immunodeficiency;Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination;Combined immunodeficiencies with associated or syndromic features 24589341;24698316;24931394 False 3 100;0;0 8.99 False ENSG00000013375 ENSG00000013375 HGNC:8907 PI4KA gene PI4KA Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 25855803;34415322;34415310 False 3 100;0;0 8.99 False ENSG00000241973 ENSG00000241973 HGNC:8983 PIK3CD gene PIK3CD A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 14A, autosomal dominant, OMIM:615513;Immunodeficiency 14B, autosomal recessive, OMIM:619281;Combined immunodeficiency;Activated PI3K-delta syndrome (APDS);Predominantly Antibody Deficiencies;Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia;Severe bacterial infections 24165795;24136356;29226301;31073077 False 3 100;0;0 8.99 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 PIK3CG gene PIK3CG Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immune dysregulation;HLH-like;childhood-onset antibody defects;cytopenias;T lymphocytic pneumonitis and colitis 32001535;31554793 False 3 100;0;0 8.99 False ENSG00000105851 ENSG00000105851 HGNC:8978 PIK3R1 gene PIK3R1 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive, 615214;SHORT syndrome, 269880;Immunodeficiency 36, 616005;Agammaglobulinemia 7;Immunodeficiency 36;Combined immunodeficiency;Activated PI3K-delta syndrome (APDS);Agammaglobulinemia;immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD);Severe bacterial infections, decreased or absent pro-B cells;Predominantly Antibody Deficiencies;Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV 22351933;9888855;25133428;25488983 False 3 100;0;0 8.99 False ENSG00000145675 ENSG00000145675 HGNC:8979 PLCG2 gene PLCG2 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878;Familial cold autoinflammatory syndrome 3, OMIM:614468;Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory 23000145;29538758;25760457;22236196 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197943 ENSG00000197943 HGNC:9066 PLG gene PLG Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angioedema, hereditary, 4, OMIM:619360 28795768;29548426;29952006;30809376;31131012;32066472;32065705;32181895;33799813 False 3 67;33;0 8.99 False ENSG00000122194 ENSG00000122194 HGNC:9071 PNP gene PNP ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency;T-B+ SCID;Atypical Severe Combined Immunodeficiency (Atypical SCID);Combined immunodeficiency;Autoimmune haemolytic anemia, neurological impairment;Combined immunodeficiencies with associated or syndromic features 1384322;3029074 False 3 100;0;0 8.99 False ENSG00000198805 ENSG00000198805 HGNC:7892 POLA1 gene POLA1 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperpigmentation, characteristic facies, lung and GI involvement;Autoinflammatory Disorders;Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220;X-linked reticulate pigmentary disorder;x-linked cutaneous amyloidosis with systemic features 27019227;6794369;15804299 False 3 100;0;0 8.99 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLD1 gene POLD1 Expert Review Green;IUIS Classification December 2019;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability;Polymerase d 1 deficiency;Immunodeficiencies affecting cellular and humoral immunity 31449058;32086639;32048120;31629014 False 3 60;40;0 8.99 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal FILS syndrome 615139;Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome);Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature;Combined immunodeficiencies with associated or syndromic features 23230001 False 3 33;67;0 8.99 False ENSG00000177084 ENSG00000177084 HGNC:9177 POMP gene POMP Expert Review Green;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteasome-associated autoinflammatory syndrome 2, OMIM:618048;CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome);Combined immunodeficiency with autoinflammation 26524591;29805043 False 3 100;0;0 8.99 False ENSG00000132963 ENSG00000132963 HGNC:20330 PRF1 gene PRF1 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553 28468610;22248322;12229880;28806468;15365097;11179007;14757862;16860143;10583959;15632205;20301617 False 3 100;0;0 8.99 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRIM1 gene PRIM1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Microcephalic primordial dwarfism, MONDO:0017950;Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005 33060134 False 3 100;0;0 8.99 False ENSG00000198056 ENSG00000198056 HGNC:9369 PRKCD gene PRKCD ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III 615559;Immunodeficiency, common variable, 9;Autoimmune lymphoproliferative syndrome (ALPS);Unclassified antibody deficiency;Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG;Diseases of Immune Dysregulation 19075392;23430113;25842288;23722905;23319571;27541826;23666743 False 3 100;0;0 8.99 False ENSG00000163932 ENSG00000163932 HGNC:9399 PRKDC gene PRKDC ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 26, with or without neurologic abnormalities;Immunodeficiency, with or without neurologic abnormalities;DNA Pkcs deficiency;Combined immunodeficiency;Severe combined immunodeficiency (SCID);Nl NK, radiation sensitive, microcephaly;Immunodeficiencies affecting cellular and humoral immunity 19075392;23722905;25842288 False 3 100;0;0 8.99 False ENSG00000253729 ENSG00000253729 HGNC:9413 PSMB10 gene PSMB10 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 121 with autoinflammation, OMIM:620807;Proteasome-associated autoinflammatory syndrome 5, OMIM:619175 31783057;36250618;37600812;38503300;39734035 False 3 86;14;0 8.99 False ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB8 gene PSMB8 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040;Autoinflammation, lipodystrophy, and dermatosis syndrome;Contractures, panniculitis, ICC, fevers;Autoinflammatory Disorders;CANDLE syndrome 21881205;20159315;21953331;21129723;20534754;21852578 False 3 100;0;0 8.99 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSTPIP1 gene PSTPIP1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416;Destructive arthritis, inflammatory skin rash, myositis;Hyperzincaemia hypercalprotectinaemia;Autoinflammatory Disorders 21532836;9212761;28628471;28251506;28960754;22161697;26025129;29575118 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000140368 ENSG00000140368 HGNC:9580 PTCRA gene PTCRA Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Autoimmunity, HP:0002960;lymphopenia, MONDO:0003783 38422122 False 3 100;0;0 8.99 False ENSG00000171611 ENSG00000171611 HGNC:21290 PTPN2 gene PTPN2 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lupus;arthritis;common variable immunodeficiency;Very early onset inflammatory bowel disease 27658548;32499645;32721438 False 3 50;50;0 8.99 False ENSG00000175354 ENSG00000175354 HGNC:9650 PTPRC gene PTPRC ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;{Hepatitic C virus, susceptibility to}, 609532;T-B+ SCID;CD45 deficiency;Omenn syndrome;Severe combined immunodeficiency (SCID);Nl g/d T cells;Immunodeficiencies affecting cellular and humoral immunity 11145714;10700239;22689986 False 3 100;0;0 8.99 False ENSG00000081237 ENSG00000081237 HGNC:9666 RAB27A gene RAB27A ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2 607624;Partial albinism, fever, HSM, HLH, cytopenias;Diseases of Immune Dysregulation 12531900;9486701;12058346;10835631;24134793;12522785;15163896;16517541 False 3 100;0;0 8.99 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAC2 gene RAC2 Combined B and T cell defect v1.12;Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal T-B- SCID;T-B+ SCID;Neutrophil immunodeficiency syndrome 608203;Neutrophil immunodeficiency syndrome;RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2);Poor wound healing, leukocytosis;Congenital defects of phagocyte number or function;Reticular dysgenesis;Recurrent sinopulmonary infections, selective IgA defiency;poststreptococcal glomerulonephritis;urticaria 21167572;30654050;30723080;31071452;25512081;10758162;31382036;10961859;32198141;31919089 False 3 17;17;67 8.99 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAG1 gene RAG1 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, B cell-negative;Severe Combined Immune Deficiency;Severe combined immunodeficiency, B cell-negative, 601457;T-B- SCID;T-B+ SCID;RAG1 deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Omenn syndrome;Severe combined immunodeficiency (SCID);Nl NK;Immunodeficiencies affecting cellular and humoral immunity 16960852;8810255;30046960 False 3 100;0;0 8.99 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, B cell-negative;Severe Combined Immune Deficiency;Severe combined immunodeficiency, B cell-negative, 601457;T-B- SCID;T-B+ SCID;Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive;RAG2 deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Omenn syndrome;Severe combined immunodeficiency (SCID);Nl NK;Immunodeficiencies affecting cellular and humoral immunity 16960852;30046960 False 3 100;0;0 8.99 False ENSG00000175097 ENSG00000175097 HGNC:9832 RANBP2 gene RANBP2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity;Fever induces acute encephalopathy 32048120;32086639 False 3 100;0;0 8.99 False ENSG00000153201 ENSG00000153201 HGNC:9848 RASGRP1 gene RASGRP1 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma;Diseases of Immune Dysregulation;EBV-induced lymphoma;Immunodeficiency;Immunodeficiency 64, 618534;Immunodeficiency;immunde dysregulation;EBV-induced lymphoma 29155103;28822832;29282224;27776107;30030704 False 3 100;0;0 8.99 False ENSG00000172575 ENSG00000172575 HGNC:9878 RBCK1 gene RBCK1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895;Bacterial infections, autoinflammation, amylopectinosis;Combined immunodeficiencies with associated or syndromic features 23798481;610924;29260357;23104095 False 3 100;0;0 8.99 False ENSG00000125826 ENSG00000125826 HGNC:15864 RECQL4 gene RECQL4 ESID Registry 20171117;Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, OMIM:268400;Combined immunodeficiency 16630167;21143835;26064716;30174688 False 3 0;50;50 8.99 False ENSG00000160957 ENSG00000160957 HGNC:9949 REL gene REL Expert Review Green;IUIS Classification December 2019;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 92, OMIM:619652 31103457;32048120;32086639;34623332 False 3 40;40;20 8.99 False ENSG00000162924 ENSG00000162924 HGNC:9954 RELA gene RELA Expert Review Green;IUIS Classification December 2019;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287 28600438;29305315;32969189;35412596;36926348 False 3 60;40;0 8.99 False ENSG00000173039 ENSG00000173039 HGNC:9955 RELB gene RELB Combined B and T cell defect v1.12;Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 53, OMIM:617585 26385063;36402602;39231201 False 3 40;0;60 8.99 False ENSG00000104856 ENSG00000104856 HGNC:9956 RFX5 gene RFX5 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group C;Bare lymphocyte syndrome, type II, complementation group E;HLA class II deficiency;Combined immunodeficiency;Bare lymphocyte syndrome (MHC class II deficiency);Respiratory and gastrointestinal infections, liver/biliary tract disease;Immunodeficiencies affecting cellular and humoral immunity 7744245;9401005 False 3 100;0;0 8.99 False ENSG00000143390 ENSG00000143390 HGNC:9986 RFXANK gene RFXANK Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal MHC class II deficiency, complementation group B, OMIM:209920;HLA class II deficiency;Respiratory and gastrointestinal infections, liver/biliary tract disease;Immunodeficiencies affecting cellular and humoral immunity 20414676;9806546;12618906;22863278;11313409 False 3 100;0;0 8.99 False ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group D;Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome);HLA class II deficiency;Respiratory and gastrointestinal infections, liver/biliary tract disease;Immunodeficiencies affecting cellular and humoral immunity 22390233;9118943; 9806639;9806639;9287230;18336911;20197681;12498778 False 3 100;0;0 8.99 False ENSG00000133111 ENSG00000133111 HGNC:9988 RIPK1 gene RIPK1 Expert Review Green;Literature;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852;Immunodeficiency 57 with autoinflammation, OMIM: 618108 30026316;30591564;31213653;31827280;30026316 False 3 100;0;0 8.99 False ENSG00000137275 ENSG00000137275 HGNC:10019 RMRP gene RMRP Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 1, 232220;Cartilage-hair hypoplasia, with or without immunodeficiency;Cartilage-hair hypoplasia;Omenn syndrome;Cartilage hair hypoplasia;Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine;Combined immunodeficiencies with associated or syndromic features 25663137;3582365;14569125;12107819;11207361;26830278;24217815;26279652;2328993 False 3 100;0;0 8.99 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A ESID Registry 20171117;Expert Review Green;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 Aicardi-Goutieres syndrome 4 610333, Lupus;Type 1 interferonopathies;Classical AGS;Autoinflammatory Disorders 16845400;23592335;21454563 False 3 100;0;0 8.99 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B ESID Registry 20171117;Expert Review Green;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 Aicardi-Goutieres syndrome 2, OMIM:610181 False 3 100;0;0 8.99 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C ESID Registry 20171117;Expert Review Green;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 Aicardi-Goutieres syndrome 3 610329;Type 1 interferonopathies;Classical AGS;Autoinflammatory Disorders 16845400;17846997;23322642;25604658 False 3 100;0;0 8.99 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNF168 gene RNF168 ESID Registry 20171117;Expert Review Green;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 RIDDLE syndrome 611943;RNF168 deficiency;Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity;Combined immunodeficiencies with associated or syndromic features 19203578;21394101;29255463 False 3 100;0;0 8.99 False ENSG00000163961 ENSG00000163961 HGNC:26661 RNU7-1 gene RNU7-1 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9, OMIM:619487;Type I interferonopathy 33230297;33598806 False 3 33;67;0 8.99 False ENSG00000238923 ENSG00000238923 HGNC:34033 RORC gene RORC Expert Review Green;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 Immunodeficiency 42 616622;Susceptibility to candidasis & Mycobacterial infection;Susceptibility to mycobacteria and candida;Defects in Intrinsic and Innate Immunity 26160376 False 3 100;0;0 8.99 False ENSG00000143365 ENSG00000143365 HGNC:10260 RPSA gene RPSA ESID Registry 20171117;Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Isolated congential asplenia 271400;Bacteremia (encapsulated bacteria);Defects in Intrinsic and Innate Immunity 22560297;23579497 False 3 100;0;0 8.99 False ENSG00000168028 ENSG00000168028 HGNC:6502 RTEL1 gene RTEL1 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190;Dyskeratosis congenita, 5 615190;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;Combined immunodeficiencies with associated or syndromic features 23453664;23959892;23591994 False 3 100;0;0 8.99 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIRAGE syndrome, OMIM:617053 28487541;29535429;32048120;29266745;29175836;32086639;27182967;31620126;33423168 False 3 50;50;0 8.99 False ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction;MDS, neurological features;Bone marrow failure;Combined immunodeficiencies with associated or syndromic features 28202457;31874111;32048120;32086639;36969289 False 3 50;50;0 8.99 False ENSG00000177409 ENSG00000177409 HGNC:1349 SAMHD1 gene SAMHD1 ESID Registry 20171117;Expert Review Green;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 Aicardi-Goutieres syndrome 5 612952;Type 1 interferonopathies;Classical AGS, FCL;Autoinflammatory Disorders 19525956;20358604;21102625 False 3 100;0;0 8.99 False ENSG00000101347 ENSG00000101347 HGNC:15925 SASH3 gene SASH3 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 102, OMIM:301082 33876203 False 3 100;0;0 8.99 False ENSG00000122122 ENSG00000122122 HGNC:15975 SBDS gene SBDS Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 Shwachman-Diamond syndrome, 260400;Shwachman-Bodian-Diamond syndrome;Shwachman-Diamond-syndrome;Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia;Congenital defects of phagocyte number or function 12496757;11342425;14749921 False 3 100;0;0 8.99 False ENSG00000126524 ENSG00000126524 HGNC:19440 SEC61A1 gene SEC61A1 Expert Review Green;IUIS Classification December 2019;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SEC61A1 deficiency;Severe recurrent respiratory tract infections;Hyperuricemic nephropathy, familial juvenile, 4, 617056;Predominantly Antibody Deficiencies;Hypogammaglobulinaemia;Severe congenital neutropenia 27392076;28782633;32048120;32086639;32325141 False 3 60;40;0 8.99 False ENSG00000058262 ENSG00000058262 HGNC:18276 SERPING1 gene SERPING1 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, types I and II 106100;Hereditary Angioedema (C1inh);Complement component 4, partial deficiency of 120790;Hereditary angioedema;Complement Deficiencies 1597123;7883978 False 3 100;0;0 8.99 False ENSG00000149131 ENSG00000149131 HGNC:1228 SGPL1 gene SGPL1 Combined B and T cell defect v1.12;Expert Review Green;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 14, 617575;drenal insufficiency;steroid-resistant nephrotic syndrome;focal segmental glomerulosclerosis;lymphopenia 28181337; 28165339; 28165343 False 3 100;0;0 8.99 False ENSG00000166224 ENSG00000166224 HGNC:10817 SH2D1A gene SH2D1A ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 1 308240;Lymphoproliferative syndrome, X-linked, 1 (XLP1);X-linked lymphoproliferative syndrome (XLP);EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells;Diseases of Immune Dysregulation 21119115;29670631;10556288;9774102;11049992;10598819;9771704;10694488;25085526;31754776 False 3 100;0;0 8.99 False ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2,614602;Trichohepatoenteric syndrome;Immune dysfunction 29484573;29145277;28944135 False 3 100;0;0 8.99 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC29A3 gene SLC29A3 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome;Autoinflammatory Disorders 17461801;19336477;23530176;18940313;22238637;16118898;22875837;19175903;21888995;20140240;16155931;21178579;9545394;16650224;22653152;18947330;20619369 False 3 100;0;0 8.99 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC35C1 gene SLC35C1 ESID Registry 20171117;Expert Review Green;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 Congenital disorder of glycosylation, type IIc 266265;Leukocyte adhesion deficiency (LAD);Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay;Congenital defects of phagocyte number or function 11326279;11326280;12116250;1279426;11213799;24403049 False 3 100;0;0 8.99 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC37A4 gene SLC37A4 Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240;Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly;Congenital defects of phagocyte number or function 12576310; 9428641; 10482962 False 3 100;0;0 8.99 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A4 gene SLC39A4 Expert Review Green;London North GLH;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, OMIM:201100;Disorder of zinc metabolism 27604308 False 3 100;0;0 8.99 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A7 gene SLC39A7 Expert Review Green;IUIS Classification December 2019;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia;Predominantly Antibody Deficiencies;B cell deficiency;Agammaglobulinemia 32086639;32048120;30718914 False 3 67;33;0 8.99 False ENSG00000112473 ENSG00000112473 HGNC:4927 SLC46A1 gene SLC46A1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050;Defects of Vitamin B12 and Folate metabolism;Congenital defect of folate absorption;Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability;Combined immunodeficiencies with associated or syndromic features 17129779;27664775;17446347 False 3 100;0;0 8.99 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC7A7 gene SLC7A7 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance SLC7A7 deficiency;Severe bacterial infections;Predominantly Antibody Deficiencies;Lysinuric protein intolerance, 222700 28057010;32086639;32048120 False 3 67;33;0 8.99 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLCO2A1 gene SLCO2A1 Expert Review Green;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441;hypertrophic osteoarthropathy, primary, autosomal recessive, 2, MONDO:0013756;Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100;hypertrophic osteoarthropathy, primary, autosomal dominant, MONDO:0008172 29313109;23509104;27134495;33852188;22331663;27134495 False 3 100;0;0 8.99 False ENSG00000174640 ENSG00000174640 HGNC:10955 SMARCAL1 gene SMARCAL1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 11799392;17089404 False 3 100;0;0 8.99 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCD2 gene SMARCD2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia;Congenital defects of phagocyte number or function;Specific granule deficiency 2, 617475 32048120;32086639;28369036;28369034 False 3 100;0;0 8.99 False ENSG00000108604 ENSG00000108604 HGNC:11107 SNORA31 gene SNORA31 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}, OMIM:619396 31806906 False 3 100;0;0 8.99 False ENSG00000199477 ENSG00000199477 HGNC:32621 SOCS1 gene SOCS1 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Common variable immunodeficiency;Early-onset autoimmunity 32499645;10490099;10490100;33087723 False 3 100;0;0 8.99 False ENSG00000185338 ENSG00000185338 HGNC:19383 SP110 gene SP110 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hepatic venoocclusive disease with immunodeficiency 235550;Hepatic venoocclusive disease with immunodeficiency (VODI);Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy;Combined immunodeficiencies with associated or syndromic features 16648851 False 3 100;0;0 8.99 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPI1 gene SPI1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agammaglobulinemia 10, autosomal dominant, OMIM:619707 33951726 False 3 100;0;0 8.99 False ENSG00000066336 ENSG00000066336 HGNC:11241 SPINK5 gene SPINK5 ESID Registry 20171117;Expert Review Green;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 Netherton syndrome 256500;Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive;Combined immunodeficiencies with associated or syndromic features 19683336;10835624;28832989;28943498;28289593 False 3 100;0;0 8.99 False ENSG00000133710 ENSG00000133710 HGNC:15464 SPPL2A gene SPPL2A Expert Review;Expert Review Green;Literature;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Defects with susceptibility to mycobacterial infection (MSMD);Susceptibility to mycobacteria;Defects in Intrinsic and Innate Immunity 30264912;30127434 False 3 80;20;0 8.99 False ENSG00000138600 ENSG00000138600 HGNC:30227 SRP54 gene SRP54 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital defects of phagocyte number or function;Schwachman Diamond features;Neutropenia, severe congenital, 8, autosomal dominant, 618752 32086639;28972538;29914977;32048120 False 3 50;50;0 8.99 False ENSG00000100883 ENSG00000100883 HGNC:11301 STAT1 gene STAT1 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892;Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796;Immunodeficiency 31C, autosomal dominant 614162;Immunodeficiency 31A, mycobacteriosis;Candidiasis, familial, 7;Combined immunodeficiency;Chronic mucocutaneous candidiasis (CMC);Defects with susceptibility to mycobacterial infection (MSMD);Severe viral infections, mycobacterial infection;CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy;Susceptibility to mycobacteria, Salmonella;Defects in Intrinsic and Innate Immunity 21727188;23709754;23541320;23534974;26513235;11452125;12590259;29702748 False 3 100;0;0 8.99 False Other - please provide details in the comments ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 ESID Registry 20171117;Expert Review Green;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 STAT2 deficiency;Predisposition to several viral infection;Immunodeficiency 44, 616636;Severe viral infections (disseminated vaccine-strain measles);Defects in Intrinsic and Innate Immunity 23391734;26122121;28087227 False 3 100;0;0 8.99 False ENSG00000170581 ENSG00000170581 HGNC:11363 STAT3 gene STAT3 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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, NOT imprinted Autoimmune disease, multisystem, infantile-onset, 1 615952;Hyper-IgE recurrent infection syndrome 147060;Autoimmune disease, multisystem, infantile-onset;Early-onset multi-organ autoimmune disease;Hyper IgE syndrome (HIES);Combined immunodeficiencies with associated or syndromic features;Diseases of Immune Dysregulation 28402852;25349174;17881745;17676033;25359994;25038750 False 3 100;0;0 8.99 False Other - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 STAT4 gene STAT4 Expert Review Green;London North GLH;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disabling pansclerotic morphea of childhood, OMIM:620443;{Systemic lupus erythematosus, susceptibility to, 11}, OMIM:612253 29029192;37256972 False 3 60;0;40 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000138378 ENSG00000138378 HGNC:11365 STAT5B gene STAT5B ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590;Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985;T-B+ SCID;Combined immunodeficiency;Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity;Combined immunodeficiencies with associated or syndromic features 29844444;26703237;17030597;16920911;15827093;16787985;17389811;13679528;20538865 False 3 75;0;25 8.99 False ENSG00000173757 ENSG00000173757 HGNC:11367 STAT6 gene STAT6 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, OMIM:620532 36216080;36758835;36884218 False 3 75;0;25 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166888 ENSG00000166888 HGNC:11368 STIM1 gene STIM1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal T-B+ SCID;Immunodeficiency 10, 612783;Combined immunodeficiency;Combined immunodeficiency due to STIM1 deficiency;Autoimmunity, EDA, non-progressive myopathy;Combined immunodeficiencies with associated or syndromic features;Combined immunodeficiency due to STIM1 deficiency ORPHA:317430 26560041;20876309;22190180;19420366;24621671;24570283 False 3 67;0;33 8.99 False ENSG00000167323 ENSG00000167323 HGNC:11386 STK4 gene STK4 Combined B and T cell defect v1.12;ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity;T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868;AR hyperimmunoglobulin E syndrome;Combined immunodeficiency;Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease;Immunodeficiencies affecting cellular and humoral immunity 22294732;26801501;24453252;26117625;22174160 False 3 100;0;0 8.99 False ENSG00000101109 ENSG00000101109 HGNC:11408 STX11 gene STX11 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial 4, 603552;FHL4;Familial hemophagocytic lymphohistiocytosis syndromes (FHLH);HPLH4;HLH4;Fever, HSM, cHLH, cytopenias,;Diseases of Immune Dysregulation 16278825;18710388;16582076;20301617;24459464;15703195 False 3 100;0;0 8.99 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial 5, 613101;FHL5;Familial hemophagocytic lymphohistiocytosis syndromes (FHLH);Fever, HSM, cHLH, cytopenias, enteropathy;Diseases of Immune Dysregulation 19884660;30557712;29776323;22451424;20798128;20301617;19804848 False 3 100;0;0 8.99 False ENSG00000076944 ENSG00000076944 HGNC:11445 STXBP3 gene STXBP3 Expert Review;Expert Review Green Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Sensorineural hearing loss;Syntaxin binding protein 3 defect 33891011;33346580;https://doi.org/10.1053/j.gastro.2017.11.120 False 3 67;33;0 8.99 False ENSG00000116266 ENSG00000116266 HGNC:11446 SYK gene SYK Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted immunodeficiency;hypogammaglobulinemia;multi-organ inflammatory disease 33782605 False 3 50;50;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165025 ENSG00000165025 HGNC:11491 TAP1 gene TAP1 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I 604571;HLA class I deficiency;Vasculitis, pyoderma gangrenosum;Immunodeficiencies affecting cellular and humoral immunity 11529920;7517574;10560675;20083708;10074494 False 3 100;0;0 8.99 False ENSG00000168394 ENSG00000168394 HGNC:43 TAP2 gene TAP2 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571;HLA class I deficiency;Wegener-like granulomatosis;Vasculitis, pyoderma gangrenosum;Immunodeficiencies affecting cellular and humoral immunity 11529920;7517574;10560675;20083708 False 3 100;0;0 8.99 False ENSG00000204267 ENSG00000204267 HGNC:44 TAZ gene TAZ Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome;Cardioskeletal myopathy with neutropenia and abnormal mitochondria;3-methylglutaconic aciduria, type II, 302060;Cardiomyopathy, myopathy, growth retardation, neutropenia;Congenital defects of phagocyte number or function False 3 100;0;0 8.99 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBK1 gene TBK1 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, OMIM:617900;Autoinflammation with arthritis and vasculitis, OMIM:620880 22851595;26513235;34363755 False 3 100;0;0 8.99 False ENSG00000183735 ENSG00000183735 HGNC:11584 TBX1 gene TBX1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DiGeorge syndrome, OMIM:188400;Conotruncal anomaly face syndrome, OMIM:217095;Velocardiofacial syndrome, OMIM:192430 11242110;32048120;32086639;14585638;24198816;12548732;17273972;30137364 False 3 29;29;43 8.99 False ENSG00000184058 ENSG00000184058 HGNC:11592 TCF3 gene TCF3 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;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 Agammaglobulinemia 8A, autosomal dominant, OMIM:616941;Agammaglobulinemia 8B, autosomal recessive, OMIM:619824;Recurrent bacterial infections;Predominantly Antibody Deficiencies 24216514;28532655;29114388;30063982 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000071564 ENSG00000071564 HGNC:11633 TCN2 gene TCN2 Agranulocytosis v1.3;A- or hypo-gammaglobulinaemia v1.25;Combined B and T cell defect v1.12;Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350;Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone;Transcobalamin-2 precursor;Defects of Vitamin B12 and Folate metabolism;Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability;Combined immunodeficiencies with associated or syndromic features 18956254;20352340;7849710;7980584;12107818;19373259;24305960 False 3 100;0;0 8.99 False ENSG00000185339 ENSG00000185339 HGNC:11653 TET2 gene TET2 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 75, OMIM:619126 32518946;36066697 False 3 50;50;0 8.99 False ENSG00000168769 ENSG00000168769 HGNC:25941 TFRC gene TFRC Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 46, OMIM:616740 26642240;32048120;32086639;32851577 False 3 75;25;0 8.99 False ENSG00000072274 ENSG00000072274 HGNC:11763 TGFB1 gene TGFB1 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213 32048120;29483653;32086639 False 3 33;67;0 8.99 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGFBR1 gene TGFBR1 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 1, 609192;Loeys Dietz syndrome due to TGFBR1 deficiency;Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms;Combined immunodeficiencies with associated or syndromic features;Loeys-Dietz syndrome 1, OMIM:609192 32048120;29392890;32086639;24486179 False 3 50;50;0 8.99 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALPS-FAS;Loeys-Dietz syndrome 2, OMIM:610168;Combined immunodeficiencies with associated or syndromic features;Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms 32048120;29392890;32086639;24486179 False 3 50;50;0 8.99 False ENSG00000163513 ENSG00000163513 HGNC:11773 TICAM1 gene TICAM1 ESID Registry 20171117;Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced, susceptibility to, 6 614850;Herpetic encephalitis (HSE);Herpes simplex virus 1 encephalitis;Defects in Intrinsic and Innate Immunity 22105173;26513235 False 3 100;0;0 8.99 False ENSG00000127666 ENSG00000127666 HGNC:18348 TLR3 gene TLR3 Expert Review Green;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Herpes simplex encephalitis, susceptibility to, 2;Herpetic encephalitis (HSE);Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here);Defects in Intrinsic and Innate Immunity 21911422;25339207;25339207;28368532 False 3 100;0;0 8.99 False Other - please provide details in the comments ENSG00000164342 ENSG00000164342 HGNC:11849 TLR7 gene TLR7 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Systemic lupus erythematosus 17, OMIM:301080;Immunodeficiency 74, COVID19-related, X-linked, OMIM:301051 32706371;35477763 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196664 ENSG00000196664 HGNC:15631 TLR8 gene TLR8 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Immunodeficiency 98 with autoinflammation, X-linked, OMIM:301078 20811154;33512449;34981838 False 3 75;25;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101916 ENSG00000101916 HGNC:15632 TMC6 gene TMC6 ESID Registry 20171117;Expert Review Green;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 Epidermodysplasia verruciformis, 226400;Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV);Defects in Intrinsic and Innate Immunity 15356576;28196644;12426567;15042430;17008061 False 3 100;0;0 8.99 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 ESID Registry 20171117;Expert Review Green;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 Epidermodysplasia verruciformis, 226400;HPV (group B1) infections and cancer of the skin (typical EV);Defects in Intrinsic and Innate Immunity 15356576;28196644;12426567;26997147;28646613 False 3 100;0;0 8.99 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMEFF1 gene TMEFF1 Expert Review Green;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174 39048823;39048830 False 3 100;0;0 8.99 False ENSG00000241697 ENSG00000241697 HGNC:11866 TMEM173 gene TMEM173 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 STING-associated vasculopathy, infantile-onset, OMIM:615934;Type 1 interferonopathies;Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC;Autoinflammatory Disorders 25401470;29425920;25029335;29491158;29976662;30705050 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000184584 ENSG00000184584 HGNC:27962 TNFAIP3 gene TNFAIP3 ESID Registry 20171117;Expert Review Green;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 Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744;Autoimmune lymphoproliferative syndrome;Arthralgia, mucosal ulcers, ocular inflammation 31164164;29317407;26642243;28659290;27845235;29572183 False 3 100;0;0 8.99 False ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF1A gene TNFRSF1A ESID Registry 20171117;Expert Review Green;GRID V2.0;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 Periodic fever, familial, OMIM:142680;TNF-receptor associated periodic fever syndrome (TRAPS);Recurrent fever, serositis, rash, and ocular or joint inflammation;Autoinflammatory Disorders 10199409;12209523;11175303;10902757;23965844;17360963;11115159 False 3 100;0;0 8.99 False ENSG00000067182 ENSG00000067182 HGNC:11916 TNFRSF9 gene TNFRSF9 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 109 with lymphoproliferation, OMIM:620282 30872117;32086639;31537641;31501153;32048120 False 3 50;50;0 8.99 False ENSG00000049249 ENSG00000049249 HGNC:11924 TOP2B gene TOP2B Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent infections, facial dysmorphism, limb anomalies;Predominantly Antibody Deficiencies;Hoffman syndrome/TOP2B deficiency 31409799;32086639;32048120 False 3 50;50;0 8.99 False ENSG00000077097 ENSG00000077097 HGNC:11990 TPP2 gene TPP2 Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Tripeptidyl-Peptidase II Deficiency;TPP2 deficiency;Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome;immune thrombocytopenia and autoimmune hemolytic anemia;Evans syndrome;Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections;Diseases of Immune Dysregulation;Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 25414442;25525876 False 3 100;0;0 8.99 False ENSG00000134900 ENSG00000134900 HGNC:12016 TRAC gene TRAC ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, 615387;Combined immunodeficiency;Recurrent viral, bacterial, fungal infections, immune dysregulation and autoimmunity, diarrhea;Immunodeficiencies affecting cellular and humoral immunity 21206088;3464003 False 3 100;0;0 8.99 False ENSG00000229164 ENSG00000277734 HGNC:12029 TRAF3 gene TRAF3 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, OMIM:614849;immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790 24378539;20832341;32048120;11296228;32086639;35960817 False 3 40;20;40 8.99 False ENSG00000131323 ENSG00000131323 HGNC:12033 TRAF3IP2 gene TRAF3IP2 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;NHS GMS;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Candidiasis, familial, 8, OMIM:615527;Defects in Intrinsic and Innate Immunity;CMC, blepharitis, folliculitis and macroglossia;Chronic mucocutaneous candidiasis (CMC);Defects in intrinsic and innate immunity 20660351;24120361;31292894;32048120;32086639;33359359;33825088;34289170 False 3 33;33;33 8.99 False ENSG00000056972 ENSG00000056972 HGNC:1343 TREX1 gene TREX1 ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, 225750;Type 1 interferonopathies;Classical AGS, SLE, FCL;Autoinflammatory Disorders 16845398;25604658;21808053;17846997;20799324 False 3 100;0;0 8.99 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM22 gene TRIM22 Expert Review Green;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Autoinflammatory Disorders;Granulomatous colitis;Diseases of Immune Dysregulation;TRIM22;Inflammatory bowel disease 26836588;32086639;32048120 False 3 50;50;0 8.99 False ENSG00000132274 ENSG00000132274 HGNC:16379 TRNT1 gene TRNT1 ESID Registry 20171117;Expert Review Green;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 Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD);Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084;congenital sideroblastic anemia, deafness, developmental delay;Predominantly Antibody Deficiencies 23553769;29055896;25193871 False 3 100;0;0 8.99 False ENSG00000072756 ENSG00000072756 HGNC:17341 TTC37 gene TTC37 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 Trichohepatoenteric syndrome 1, 222470;Intrauterine growth retardation, woolly hair;facial dysmorphism;intractable diarrhoea in infancy requiring total parenteral nutrition;Hypogammaglobulinaemia;Trichohepatoenteric syndrome;immune dysfunction;Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa;Predominantly Antibody Deficiencies 20176027;21120949;25688341;28944135;29383842;28292286 False 3 100;0;0 8.99 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A ESID Registry 20171117;Expert Review Green;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150;Multiple intestinal atresia and severe combined immunodeficiency;Combined immunodeficiency;Immunodeficiencies with multiple intestinal atresias;Combined immunodeficiency-enteropathy spectrum;Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype;Combined immunodeficiencies with associated or syndromic features 23423984;23830146;24292712;24417819 False 3 100;0;0 8.99 False ENSG00000068724 ENSG00000068724 HGNC:19750 TYK2 gene TYK2 ESID Registry 20171117;Expert Review Green;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 Immunodeficiency 35 611521;Hyper IgE syndrome (HIES);Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE;Defects in Intrinsic and Innate Immunity 17088085;22402565;26304966 False 3 100;0;0 8.99 False ENSG00000105397 ENSG00000105397 HGNC:12440 UNC13D gene UNC13D ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898 15703195;16278825;17993578;27914778;15632205;14622600;29312353 False 3 100;0;0 8.99 False ENSG00000092929 ENSG00000092929 HGNC:23147 UNC93B1 gene UNC93B1 ESID Registry 20171117;Expert Review Green;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 Herpes simplex encephalitis, susceptibility to, 1;Herpetic encephalitis (HSE);{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551;Herpes simplex virus 1 encephalitis;Defects in Intrinsic and Innate Immunity 16973841;16415873;29768176 False 3 100;0;0 8.99 False ENSG00000110057 ENSG00000110057 HGNC:13481 UNG gene UNG A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 Immunodeficiency with hyper IgM, type 5;Hyper IgM syndrome with lymphoid hyperplasia;CSR defects and Hyper IgM (HIGM) syndromes;Immunodeficiency with hyper IgM, type 5, 608106;Enlarged lymph nodes and germinal centers;Predominantly Antibody Deficiencies 12958596 False 3 100;0;0 8.99 False ENSG00000076248 ENSG00000076248 HGNC:12572 USB1 gene USB1 ESID Registry 20171117;Expert Review Green;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 Poikiloderma with neutropenia, 604173;Clericuzio-type poikiloderma with neutropenia syndrome;Retinopathy, developmental delay, facial dysmorphisms, poikiloderma;Congenital defects of phagocyte number or function 20004881;20503306 False 3 100;0;0 8.99 False ENSG00000103005 ENSG00000103005 HGNC:25792 USP18 gene USP18 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397;Autoinflammatory Disorders 32048120;27325888;31272490;32086639;31940699 False 3 60;40;0 8.99 False ENSG00000184979 ENSG00000184979 HGNC:12616 VPS13B gene VPS13B Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;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 Cohen syndrome, 216550;Cohen syndrome;Dysmorphism, mental retardation, obesity, deafness, neutropenia;Congenital defects of phagocyte number or function 12730828;15154116;15211651;20461111;24311531 False 3 100;0;0 8.99 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS45 gene VPS45 Congenital neutropaenia v1.22;Expert Review Green;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 Neutropenia, severe congenital, 5, autosomal recessive, 615285;Neutropenia, severe congenital 5;VPS45 deficiency (SCN5);Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly;Congenital defects of phagocyte number or function 23738510; 23599270 False 3 100;0;0 8.99 False ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Combined B and T cell defect v1.12;Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;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 X-LINKED: hemizygous mutation in males, biallelic mutations in females Wiskott-Aldrich syndrome;Neutropenia, severe congenital, X-linked, 300299;X-linked thrombocytopenia;Wiskott-Aldrich syndrome (WAS);X-linked thrombocytopenia with mutations in WASP;Congenital neutropenia;Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis;XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp;Combined immunodeficiencies with associated or syndromic features;Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies;Congenital defects of phagocyte number or function 11242115;16804117 False 3 100;0;0 8.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000015285 ENSG00000015285 HGNC:12731 WDR1 gene WDR1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate;Congenital defects of phagocyte number or function 32048120;27557945;32086639;27994071;27557945;29751004 False 3 20;80;0 8.99 False ENSG00000071127 ENSG00000071127 HGNC:12754 WIPF1 gene WIPF1 ESID Registry 20171117;Expert Review Green;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 Wiskott-Aldrich syndrome like, WIP deficiency;WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent;Combined immunodeficiencies with associated or syndromic features 22231303;9405671;11869681;14757742;27742395 False 3 100;0;0 8.99 False ENSG00000115935 ENSG00000115935 HGNC:12736 XIAP gene XIAP ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;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 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;Lymphoproliferative syndrome, X-linked, 2 (XLP2);X-linked lymphoproliferative syndrome (XLP);haemophagocytic lymphohistiocytosis;inflammatory bowel disease;splenomegaly;EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia;Diseases of Immune Dysregulation 26581487;21119115;23973892;17080092;21173700;22228567;23131490;25943627;31754776;32686289;25943627;24942515;29501442 False 3 100;0;0 8.99 False ENSG00000101966 ENSG00000101966 HGNC:592 ZAP70 gene ZAP70 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;SCID v1.6;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2;Immunodeficiency 48;Severe Combined Immune Deficiency;Selective T-cell defect;Zap-70 deficiency;Combined immunodeficiency;Severe combined immunodeficiency (SCID);May have immune dysregulation, autoimmunity;Immunodeficiencies affecting cellular and humoral immunity;Severe autoimmunity;Diseases of Immune Dysregulation 1333922;8202713;19548248;21094993;18509675;26783323;2511270;25732729;8124727;25805655 False 3 100;0;0 8.99 False ENSG00000115085 ENSG00000115085 HGNC:12858 ZBTB24 gene ZBTB24 ESID Registry 20171117;Expert Review Green;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 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069;Immunodeficiency centromeric instability facial anomalies syndrome (ICF);Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16;Combined immunodeficiencies with associated or syndromic features 21596365;21906047 False 3 100;0;0 8.99 False ENSG00000112365 ENSG00000112365 HGNC:21143 ZNF341 gene ZNF341 Expert Review Green;IUIS Classification December 2019;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections, OMIM:618282;Hyper-IgE syndrome;Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth;Combined immunodeficiencies with associated or syndromic features 32086639;29907691;32048120;29907690 False 3 67;33;0 8.99 False ENSG00000131061 ENSG00000131061 HGNC:15992 ZNFX1 gene ZNFX1 Expert Review Green;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, OMIM:619644 33876776;33872655 False 3 100;0;0 8.99 False ENSG00000124201 ENSG00000124201 HGNC:29271 ISCA-37446-Loss region Expert Review Green;ClinGen Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 188400;neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells;micrognathia;clefting;Hearing deficits;Velocardiofacial syndrome;cardiac malformations;DiGeorge syndrome 12548732 False 3 100;0;0 8.99 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss