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 ABO gene ABO Expert Review Green;Literature COVID-19 research Viral research Unknown Virus susceptibility 15784866 False 3 67;33;0 1.147 False ENSG00000175164 ENSG00000175164 HGNC:79 ACD gene ACD Expert Review Green;GRID V2.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research 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 1.147 False ENSG00000102977 ENSG00000102977 HGNC:25070 ACE2 gene ACE2 Expert Review Green;Other COVID-19 research Viral research Unknown 14647384;15897467;16007097;32142651;32015507;32133153 False 3 25;75;0 1.147 False ENSG00000130234 ENSG00000130234 HGNC:13557 ACP5 gene ACP5 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies;Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections;Spondyloenchondrodysplasia with immune dysregulation, 607944;Type 1 interferonopathies;Autoinflammatory Disorders 21217752;26789720;21217755;26951490;18924170;26346816 False 3 100;0;0 1.147 False ENSG00000102575 ENSG00000102575 HGNC:124 ACTB gene ACTB ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital defects of phagocyte number or function;neutrophil dysfunction;Mental retardation, short stature;Actin beta deficiency (ACTB);Phagocytic disorder;Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia;Baraitser-Winter syndrome 1, 243310 32086639;32048120;10411937 False 3 0;33;67 1.147 False ENSG00000075624 ENSG00000075624 HGNC:132 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, 102700;Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;Adenosine deaminase (ADA) deficiency;T-B+ SCID;Omenn syndrome;Severe combined immunodeficiency (SCID);T-B- SCID;Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted) False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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;26922074;24552285;29564582 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal IBD-1;ADAM17 deficiency;Inflammatory skin and bowel disease, neonatal, 1;Inflammatory skin and bowel disease, neonatal 1, 614328;Autoinflammatory Disorders;inflammatory skin;Early onset diarrhea and skin lesions 24227843;22010916;20603312;25058236;32086639;11149563;28930861;32048120;25171914 False 3 0;100;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Fever Syndromes and Related Diseases;Type 1 interferonopathies;Autoinflammatory Disorders 25604658;24183309;23001123;24262145;27643693;25769924 False 3 100;0;0 1.147 False ENSG00000160710 ENSG00000160710 HGNC:225 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 December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2, OMIM:605258;Hyper IgM syndrome with lymphoid hyperplasia;Primary Immune Deficiencies;Bacterial infections, enlarged lymph nodes and germinal centers;Predominantly Antibody Deficiencies;Immunodeficiency with hyper-IgM, type 2;CSR defects and Hyper IgM (HIGM) syndromes 27701145;21700883;12958596 False 3 100;0;0 1.147 False ENSG00000111732 ENSG00000111732 HGNC:13203 AIM2 gene AIM2 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000163568 ENSG00000163568 HGNC:357 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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, 240300;Multiple endocrine deficiency Addison disease candidiasis syndrome;Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome;Diseases of Immune Dysregulation;Chronic mucocutaneous candidiasis (CMC);Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia;Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome;Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) 9888391;19807739;11600535;11836330;10677297;29437776;29108822;19758376;9398839;9837820;28911151 False 3 100;0;0 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis, AK2 deficiency;Granulocytopenia and deafness;Reticular dysgenesis, 267500;Reticular dysgenesis with sensorineural deafness;Reticular Dysgenesis AK2 (SCID);Immunodeficiencies affecting cellular and humoral immunity 19043417;19043416 False 3 100;0;0 1.147 False ENSG00000004455 ENSG00000004455 HGNC:362 ALPI gene ALPI Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Autoinflammatory Disorders;ALPI deficiency;Inflammatory bowel disease 32086639;32048120;29567797 False 3 50;50;0 1.147 False ENSG00000163295 ENSG00000163295 HGNC:437 AP1S3 gene AP1S3 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Pustular psoriasis, 616106;Pustular psoriasis;Autoinflammatory Disorders 32086639;32048120 False 3 0;100;0 1.147 False ENSG00000152056 ENSG00000152056 HGNC:18971 AP3B1 gene AP3B1 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH;Immunodeficient HPS;Hermansky-Pudlak syndrome 2;Diseases of Immune Dysregulation;Hermansky-Pudlak syndrome with neutropenia;Hermansky-Pudlak syndrome, 608233;HPS2 28585318;16537806;11809908;16507770;19679886;14566336;8042664;23403622;10024875 False 3 100;0;0 1.147 False ENSG00000132842 ENSG00000132842 HGNC:566 AP3D1 gene AP3D1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal neutropenia;Immunodeficient HPS;seizures;Diseases of Immune Dysregulation;Hermansky-Pudlak syndrome with neutropenia;neuordevelopmental delay;albinism;?Hermansky-Pudlak syndrome 10, 617050;Hermansky-Pudlak syndrome;Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay;Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay;HSP10 26744459;32086639;32048120 False 3 0;0;100 1.147 False ENSG00000065000 ENSG00000065000 HGNC:568 APOL1 gene APOL1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trypanosomias;Trypanosomiasis, susceptibility to;Defects in Intrinsic and Innate Immunity;Trypanosomiasis 16720107;15894515;25100047;28827791;32086639;29470556;29077717;32048120;28537557 False 3 0;0;100 1.147 False ENSG00000100342 ENSG00000100342 HGNC:618 ARHGEF1 gene ARHGEF1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Predominantly Antibody Deficiencies;Recurrent infections, bronchiectasis;Immunodeficiency 62, 618459;ARHGEF1 deficiency 32086639;30521495;32048120 False 3 50;50;0 1.147 False ENSG00000076928 ENSG00000076928 HGNC:681 ARPC1B gene ARPC1B Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718;Combined immune deficiency with or without thrombocytopenia;Inflammatory predisposition 29127144;28368018;27965109 False 3 100;0;0 1.147 False ENSG00000130429 ENSG00000130429 HGNC:704 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 COVID-19 research Viral research 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 27421701;2136770;27884168;7792600;2005780 False 3 100;0;0 1.147 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP6AP1 gene ATP6AP1 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency and hepatopathy with or without neurologic features;Hepatopathy, leukopenia, low copper;Predominantly Antibody Deficiencies;Immunodeficiency 47, 300972 27231034 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 1.147 False ENSG00000166710 ENSG00000166710 HGNC:914 BACH2 gene BACH2 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diseases of Immune Dysregulation;BACH2-related immunodeficiency and autoimmunity (BRIDA);hypogammaglobulinaemia;infantile onset enterocolitis;Lymphocytic colitis, sinopulmonary infections 27807919;28530713;27680876 False 3 100;0;0 1.147 False ENSG00000112182 ENSG00000112182 HGNC:14078 BCL10 gene BCL10 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency with B cell, T cell, and fibroblast defects;?Immunodeficiency 37, 616098;Recurrent bacterial and viral infections, candidiasis, gastroenteritis;Immunodeficiencies affecting cellular and humoral immunity 32086639;32048120;25365219 False 3 0;100;0 1.147 False ENSG00000142867 ENSG00000142867 HGNC:989 BCL11B gene BCL11B Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Combined immunodeficiencies with associated or syndromic features;leaky SCID;?Immunodeficiency 49, 617237;Immunodeficiencies affecting cellular and humoral immunity;Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits 29296816;32086639;32048120;27959755 False 3 0;100;0 1.147 False ENSG00000127152 ENSG00000127152 HGNC:13222 BLK gene BLK Expert Review Green;Literature COVID-19 research Viral research Unknown Kawasaki disease 22446961;26182267;24023612;25645453;32200494 False 3 100;0;0 1.147 False ENSG00000136573 ENSG00000136573 HGNC:1057 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency;Combined immunodeficiencies with associated or syndromic features;Bloom syndrome, 210900;Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability 17407155;8231788;9482582;9285778;7585968 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia;Agammaglobulinemia 4, 613502;Severe bacterial infections, normal numbers of pro-B cells;Agammaglobulinemia 4;Predominantly Antibody Deficiencies;agammaglobulinaemia with absent B cells 19302039;24582315;25893637;10583958 False 3 100;0;0 1.147 False ENSG00000095585 ENSG00000095585 HGNC:14211 BRCA1 gene BRCA1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S, OMIM:617883;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Bone marrow failure 32086639;32048120 False 3 0;0;0 1.147 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Bone marrow failure 32086639;32048120 False 3 0;0;0 1.147 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000136492 ENSG00000136492 HGNC:20473 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 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinemia, X-linked 1, 300755;Agammaglobulinemia, X-linked;Agammaglobulinemia, X-linked 1 (XLA);Agammaglobulinemia;Severe bacterial infections, normal numbers of pro-B cells;agammaglobulinaemia;Agammaglobulinemia and isolated hormone deficiency, 307200;Agammaglobulinemia and isolated hormone deficiency;Predominantly Antibody Deficiencies;CVID 20301626 False 3 100;0;0 1.147 False ENSG00000010671 ENSG00000010671 HGNC:1133 C17orf62 gene C17orf62 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Autosomal recessive CGD EROS;Congenital defects of phagocyte number or function 30312704;30361506;32086639;32048120 False 3 50;50;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal SLE, infections with encapsulated organisms;Complement component 1 deficiency;C1q deficiency, 613652;Complement Deficiencies;Immunodeficiency due to a classical component pathway complement deficiency 7594474;28601358;25133636;8840296;26032012;21654842 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal SLE, infections with encapsulated organisms;SLE;lupus-like disease;Complement component 1 deficiency;Immunodeficiency due to an early component of complement deficiency, 613652;C1q deficiency;susceptibility to invasive bacterial infection;Complement Deficiencies 9476130;2894352;24160257;12133956;25454803;23651859;17513176 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal SLE, infections with encapsulated organisms;Complement component 1 deficiency;C1q deficiency, 613652;Complement Deficiencies;Immunodeficiency due to a classical component pathway complement deficiency 24157463;8630118;7900940;21654842 False 3 100;0;0 1.147 False ENSG00000159189 ENSG00000159189 HGNC:1245 C1R gene C1R ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2020;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal SLE;pyogenic infections;Complement component 1 deficiency;SLE, infections with encapsulated organisms, Ehlers Danlos phenotype;Complement Deficiencies;C1r/C1s deficiency, combined, Lupus;Immunodeficiency due to a classical component pathway complement deficiency 28544690;21784777;27745832;29795138;28711143 False 3 80;20;0 1.147 False ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2021;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal SLE;pyogenic infections;Complement component 1 deficiency;SLE, infections with encapsulated organisms, Ehlers Danlos phenotype;Complement Deficiencies;C1s deficiency, 613783;C1s deficiency, Lupus 27745832;11390518;20727163;9856483 False 3 80;20;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Complement Component C2 Deficiency;Lupus;Complement Deficiencies;SLE, infections with encapsulated organisms, atherosclerosis;C2 deficiency, 217000;Immunodeficiency due to C1, C4, or C2 component complement deficiency 1577763;15643297;11079100;8621452;7901282 False 3 100;0;0 1.147 False ENSG00000166278 ENSG00000166278 HGNC:1248 C3 gene C3 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2022;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement Deficiencies;Complement component 3 deficiency;Atypical hemolytic-uremic syndrome, dense deposit disease;Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations;C3 deficiency, 613779 1350678;1976733;15781264;4117597 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal C4a deficiency, 614380;Complement Deficiencies;SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense;Complement component 4 deficiency;SLE predisposition;Immunodeficiency due to a classical component pathway complement deficiency;infections with encapsulated organisms 15294999;2295875;22482068 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal C4B deficiency, 614379;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;SLE predisposition 12626442;2355198;19062096;1569346;2788199 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal C5 deficiency, 609536;Disseminated neisserial infections;Complement Deficiencies;Complement component 5 deficiency;Susceptibility to invasive bacterial infection, especially meningococcal 19375167;25534848;7730648 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Disseminated neisserial infections;C6 deficiency, 612446;Complement Deficiencies;Susceptibility to invasive bacterial infection, especially meningococcal;Complement component 6 deficiency 9472666;8690922;12653841 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Disseminated neisserial infections;Complement component 7 deficiency;Complement Deficiencies;C7 deficiency, 610102;Susceptibility to invasive bacterial infection, especially meningococcal 16771861;15554930;9844043;7762578 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Disseminated neisserial infections;Complement component 8 deficiency;C8 deficiency, type I, 613790;Complement Deficiencies;Susceptibility to invasive bacterial infection, especially meningococcal 9759902 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Disseminated neisserial infections;C8 deficiency, type II, 613789;Complement component 8 deficiency;Complement Deficiencies;Susceptibility to invasive bacterial infection, especially meningococcal 8098723;19434484;9476133;27183977 False 3 100;0;0 1.147 False ENSG00000021852 ENSG00000021852 HGNC:1353 C8G gene C8G ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Complement Deficiencies;Complement factor 8 defect;Complement component 8 deficiency;Disseminated neisserial infections 32086639;32048120 False 3 0;0;100 1.147 False ENSG00000176919 ENSG00000176919 HGNC:1354 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Mild susceptibility to disseminated neisserial infections;Complement component 9 deficiency;Complement Deficiencies;Susceptibility to invasive bacterial infection, especially meningococcal;C9 deficiency, 613825 9634479;9570574;9144525;10072634 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal immunodeficiency 11B with atopic dermatitis (AD), 617638;CARD11 deficiency;Combined immunodeficiency;Autoimmune lymphoproliferative syndrome (ALPS);Pneumocystis jirovecii pneumonia, bacterial and viral infections;Severe atopy, recurrent infections;B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452;Atypical Severe Combined Immunodeficiency (Atypical SCID);Splenomegaly, lymphadenopathy, poor vaccine response;Immunodeficiencies affecting cellular and humoral immunity;Predominantly Antibody Deficiencies;Predominantly antibody deficiencies;Combined immunodeficiencies with associated or syndromic features;Immunodeficiency 11A, 615206 (AR) 25352053;23374270;29074947;23129749;23561803;30170123;28628108;28826773 False 3 75;25;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pityriasis rubra pilaris, OMIM:173200;Psoriasis 2, OMIM:602723;Autoinflammatory Disorders 23648549;23067081;22703878;29689250;29980436;29704870;23711932;22521418;30248356 False 3 75;25;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Predisposition to invasive fungal disease due to CARD9 deficiency;212050;CARD9 deficiency;Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections;Candidiasis, familial, 2;Defects in Intrinsic and Innate Immunity 19864672;23335372;24131138 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal warts, molluscum contagiosum, and T cell dysfunction;Combined immunodeficiency;Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy;Diseases of Immune Dysregulation;EBV+ disseminated smooth muscle tumours 27647349;27896283;28112205 False 3 100;0;0 1.147 False ENSG00000159753 ENSG00000159753 HGNC:27089 CASP1 gene CASP1 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown 19362023;32171193;32303424;22432004;32172672;28424239 False 3 100;0;0 1.147 False ENSG00000137752 ENSG00000137752 HGNC:1499 CASP10 gene CASP10 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adenopathies, splenomegaly, autoimmunity;Autoimmune lymphoproliferative syndrome, type II, 603909;Autoimmune lymphoproliferative syndrome (ALPS);Diseases of Immune Dysregulation 16446975;9028957;10412980;25663566;16611303;21447005 False 3 100;0;0 1.147 False ENSG00000003400 ENSG00000003400 HGNC:1500 CASP3 gene CASP3 Expert Review Green;Literature COVID-19 research Viral research Unknown Kawasaki disease 32200494;24903211;21160486;23894522 False 3 0;0;0 1.147 False ENSG00000164305 ENSG00000164305 HGNC:1504 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Caspase-8 deficiency state;Immunodeficiency due to CASP8 deficiency;CEDS;?Autoimmune lymphoproliferative syndrome, type IIB, 607271;Diseases of Immune Dysregulation;Caspase 8 deficiency;Autoimmune lymphoproliferative syndrome (ALPS);Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia 24240292;16157684;12353035;20301287 False 3 100;0;0 1.147 False ENSG00000064012 ENSG00000064012 HGNC:1509 CCBE1 gene CCBE1 Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features;Combined immunodeficiencies with associated or syndromic features;Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 24913602;19911200;19935664 False 3 100;0;0 1.147 False ENSG00000183287 ENSG00000183287 HGNC:29426 CCL2 gene CCL2 Expert Review Green;Literature COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {HIV-1, resistance to}, 609423;Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection;Susceptibility to SARS-CoV;Susceptibility to viral Japanese encephalitis 25818534;26687605;16916890;24788844;27260136;29057937 False 3 100;0;0 1.147 False ENSG00000108691 ENSG00000108691 HGNC:10618 CCL5 gene CCL5 Expert Review Green;Literature COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection;Susceptibility to SARS-CoV 17540042;22576913;31874580;30175654;29498364 False 3 100;0;0 1.147 False ENSG00000161570 ENSG00000271503 HGNC:10632 CCR2 gene CCR2 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000121807 ENSG00000121807 HGNC:1603 CD14 gene CD14 Expert Review Green;Literature COVID-19 research Viral research Unknown Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection;Susceptibility to SARS-CoV 17913858;25572736 False 3 100;0;0 1.147 False ENSG00000170458 ENSG00000170458 HGNC:1628 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 3;Isolated IgG subclass deficiency;Recurrent infections, may have glomerulonephritis;Immunodeficiency, common variable, 3 613493;Common variable immunodeficiency disorders (CVID);Predominantly Antibody Deficiencies;hypogammaglobulinemia 16672701;21159371;21330302 False 3 100;0;0 1.147 False ENSG00000177455 ENSG00000177455 HGNC:1633 CD244 gene CD244 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown 26919106;21625589;28396665;28386908;30947296;21214542 False 3 100;0;0 1.147 False ENSG00000122223 ENSG00000122223 HGNC:18171 CD247 gene CD247 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 25;T-B+ severe combined immunodeficiency due to CD3zeta;Immunodeficiency 25, 610163;Nl NK, no g/d T cells;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Severe combined immunodeficiency (SCID) 26690594;17170122;16672702;25688246;27555457;https://doi.org/10.14785/lpsn-2014-0012 False 3 0;40;60 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2;Combined immunodeficiency;Diseases of Immune Dysregulation;Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma;Combined immunodeficiency with EBV-associated lymphoproliferation;CD27 deficiency 22197273;25843314;22801960 False 3 100;0;0 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal CD3d deficiency;Severe Combined Immune Deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Nl NK, no g/d T cells;Immunodeficiency 19;Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;Severe combined immunodeficiency (SCID) False 3 100;0;0 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to defect in CD3-epsilon;Severe Combined Immune Deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Nl NK, no g/d T cells;Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Immunodeficiency 18, SCID variant;Severe combined immunodeficiency (SCID);CD3e deficiency False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Immunodeficiency 17, CD3 gamma deficient 615607;CD3z deficiency;Immunodeficiencies affecting cellular and humoral immunity;N/A 1635567;17277165 False 3 100;0;0 1.147 False ENSG00000160654 ENSG00000160654 HGNC:1675 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3;Hyper-IgM syndrome due to CD40 deficiency;non-X-linked hyper IgM syndrome;Immunodeficiencies affecting cellular and humoral immunity;HIGM3;CD40 deficiency;Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections;CSR defects and Hyper IgM (HIGM) syndromes 17502893;20301287;12584544;11675497 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyper-IGM immunodeficiency, X-linked;HIGM;Hyper-IGM syndrome;Hyper-IgM syndrome type 1;Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections;XHIM;Immunodeficiency, X-linked, with hyper-IgM;Immunodeficiencies affecting cellular and humoral immunity;Hyper-IgM syndrome due to CD40 ligand deficiency;Hyper-IgM syndrome due to CD40L deficiency;IHIS;HIGM1;IMD3;CSR defects and Hyper IgM (HIGM) syndromes;Immunodeficiency 3;CD40 ligand deficiency 7678782;7586644;11875495;20301576;7882172;17146684;8094231;7679206;7679801 False 3 100;0;0 1.147 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922;atypical HUS;Membrane Cofactor Protein (CD46) deficiency;Complement Deficiencies;Atypical hemolytic-uremic syndrome, infections, preeclampsia 16621965;14566051;14615110 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal primary intestinal lymphangiectasia;protein-losing enteropathy;Protein losing enteropathy, thrombosis;Decay-accelerating factor for complement deficiency (DAF CD55);Complement Deficiencies;hypogammaglobulinaemia;angiopathic thrombosis 28657829 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Primary CD59 deficiency;paroxysmal nocturnal haemoglobinuria;CD59 antigen P18-20 deficiency (CD59);Hemolytic anemia, polyneuropathy;Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300;childhood relapsing immune-mediated polyneuropathy;Complement Deficiencies;chronic hemolysis;Membrane Attack Complex Inhibitor (CD59) deficiency 1382994;1699124;23149847;24382084;25716358 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;CD70-deficiency;Diseases of Immune Dysregulation;EBV-related malignancy;EBV susceptibility, Hodgkin lymphoma 28011864;28011863;29434583 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia;Agammaglobulinemia 3, 613501;Severe bacterial infections, normal numbers of pro-B cells;Agammaglobulinemia with autosomal recessive inheritance (ARA);Predominantly Antibody Deficiencies;CD79A deficiency;Agammaglobulinemia 3 19302039;11920841;24481606;10525050;29335801;24909997 False 3 83;0;17 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia;Severe bacterial infections, normal numbers of pro-B cells;Agammaglobulinemia 6, 612692;CD79B deficiency, Agammaglobulinemia with autosomal recessive inheritance (ARA);Agammaglobulinemia 6;Predominantly Antibody Deficiencies 17709424;17675462;24722855 False 3 80;0;20 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal CD81 deficiency;Isolated IgG subclass deficiency;Recurrent infections, may have glomerulonephritis;Common variable immunodeficiency disorders (CVID);hypogammaglobulinaemia;Predominantly Antibody Deficiencies;Immunodeficiency, common variable 6, 613496 27250108;32086639;14530327;32048120;20237408 False 3 0;100;0 1.147 False ENSG00000110651 ENSG00000110651 HGNC:1701 CD8A gene CD8A ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections, may be asymptomatic;Susceptibility to respiratory infections associated with CD8alpha chain mutation;CD8 deficiency familial, 608957;Immunodeficiencies affecting cellular and humoral immunity 11435463;32086639;32048120;17658607 False 3 0;100;0 1.147 False ENSG00000153563 ENSG00000153563 HGNC:1706 CDC42 gene CDC42 Expert Review;Expert Review Green COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neonatal-onset cytopaenia with dyshaematopoiesis;autoinflammation;rash;HLH 31601675;32303876;32231661;31271789 False 3 100;0;0 1.147 False ENSG00000070831 ENSG00000070831 HGNC:1736 CDCA7 gene CDCA7 Expert Review Green;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal ICF;recurrent respiratory infections;ICF3;Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910;immunodeficiency, centromeric instability, facial anomalies syndrome type 3;hypogammaglobulinaemia;enteropathy;Combined immunodeficiencies with associated or syndromic features;Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16;Immunodeficiency-centromeric instability-facial anomalies syndrome 28128455;27328760;15952214;29339483;29659838;1999836;26216346 False 3 100;0;0 1.147 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 COVID-19 research Viral research 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 11313242;29651288;10359588 False 3 100;0;0 1.147 False ENSG00000092067 ENSG00000092067 HGNC:1836 CFB gene CFB 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infections with encapsulated organisms;Complement Deficiencies;complement factor B deficiency (AR);Atypical Hemolytic-uremic syndrome;Complement factor B deficiency, 615561;Susceptibility to atypical haemolytic uraemic syndrome 4 (AD) 4109808;24152280 False 3 75;25;0 1.147 False ENSG00000243649 ENSG00000243649 HGNC:1037 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Complement factor D deficiency, 613912;Neisserial infections;Recurrent Neisseria infections due to factor D deficiency;Complement Deficiencies;Complement factor D deficiency;Factor D deficiency 29522842;6568950;16527897;11457876 False 3 100;0;0 1.147 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement Deficiencies;Complement factor H deficiency, 609814;Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease 14978182;9312129;24722444;2966809;1701856;10803850;16612335;7742208 False 3 100;0;0 1.147 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement Deficiencies;Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility;Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections 32086639;32048120 False 3 0;100;0 1.147 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement Deficiencies;Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility;Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections 32086639;32048120 False 3 0;50;50 1.147 False ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement Deficiencies;Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility;Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections 32086639;32048120 False 3 0;100;0 1.147 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement Deficiencies;Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility;Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections 32086639;32048120 False 3 0;100;0 1.147 False ENSG00000134365 ENSG00000134365 HGNC:16979 CFHR5 gene CFHR5 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Atypical hemolytic-uremic syndrome with anti-factor H antibodies;Atypical hemolytic uremic syndrome susceptibility;Nephropathy due to CFHR5 deficiency, 614809;Complement Deficiencies;Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections 28673452;20800271;32086639;22503529;32048120 False 3 0;100;0 1.147 False ENSG00000134389 ENSG00000134389 HGNC:24668 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Macular degeneration, age-related, 13, susceptibility to}, 615439;Complement factor I deficiency;Factor I deficiency;{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923;Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia;Complement Deficiencies;Immunodeficiency with factor I anomaly;C3b inactivator deficiency;Complement factor I deficiency, 610984 18374984;24142231;22710145;19065647;8613545;12562389;27091480;3897024;21316765;25988862 False 3 100;0;0 1.147 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 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Neisserial infections;Complement Deficiencies;Properdin deficiency;Properdin P factor complement deficiency (PFC) 22229731;10909851;8530058;7151327;6903190 False 3 100;0;0 1.147 False ENSG00000126759 ENSG00000126759 HGNC:8864 CFTR gene CFTR Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Congenital defects of phagocyte number or function;Cystic fibrosis, 219700;Respiratory infections, pancreatic insufficiency, elevated sweat chloride 32086639;32048120 False 3 33;67;0 1.147 False ENSG00000001626 ENSG00000001626 HGNC:1884 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome, 214800;Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs;Immunodeficiency;Combined immunodeficiencies with associated or syndromic features;COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES;Charge syndrome 15300250;29159871;25689927;20052490;18976358;19403480;26544072;19187738;29531775;26563674;21378379;22461308;18505430 False 3 100;0;0 1.147 False ENSG00000171316 ENSG00000171316 HGNC:20626 CIB1 gene CIB1 Expert Review Green;IUIS Classification December 2019;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal "Epidermodysplasia verruciformis 3 618267;Defects in intrinsic and innate immunity;CIB1 deficiency" 32086639;32048120;300068544 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal HLA class II deficiency;Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome);Immunodeficiencies affecting cellular and humoral immunity;Respiratory and gastrointestinal infections, liver/biliary tract disease;Bare lymphocyte syndrome, type II, complementation group A 8402893;11862382;9099848 False 3 100;0;0 1.147 False ENSG00000179583 ENSG00000179583 HGNC:7067 CLCN7 gene CLCN7 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Osteopetrosis with hypocalcemia, neurologic features 32086639;32048120 False 3 0;0;100 1.147 False ENSG00000103249 ENSG00000103249 HGNC:2025 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR;Congenital defects of phagocyte number or function;3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271;3-methylglutaconic aciduria, type VII;3-methylglutaconic aciduria, type 7;Recurrent or severe infection 25650066;25597510;27891836;28687938;26916670;25597511 False 3 100;0;0 1.147 False ENSG00000162129 ENSG00000162129 HGNC:30664 COPA gene COPA Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414 28956095;25894502;29137621 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Immunodeficiency 8;hypogammaglobulinaemia, combined immunodeficiency;Coronin-1A deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Detectable thymus, EBV;Immunodeficiencies affecting cellular and humoral immunity;Omenn syndrome;Severe combined immunodeficiency (SCID) 23522482;18836449;19097825 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections;Lupus;Isolated IgG subclass deficiency;Immunodeficiency, common variable, 7;Common variable immunodeficiency disorders (CVID);hypogammaglobulinaemia;Predominantly Antibody Deficiencies;Immunodeficiency, common variable, 7, 614699 22035880;26325596 False 3 33;33;33 1.147 False ENSG00000117322 ENSG00000117322 HGNC:2336 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Congenital pulmonary alveolar proteinosis;Alveolar proteinosis;Congenital defects of phagocyte number or function;Pulmonary alveolar proteinosis;hypersensitivity;Surfactant metabolism dysfunction, pulmonary 4, 300770 1972780;18955570;23632888;18955567 False 3 100;0;0 1.147 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5, 614370;Congenital defects of phagocyte number or function;Alveolar proteinosis 21205713;21075760;9410898 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Congenital neutropenia;Congenital defects of phagocyte number or function;Neutropenia, severe congenital 7;N/A;Neutropenia, severe congenital, 7, autosomal recessive, 617014 24753537;29070147;19620628;26324699 False 3 80;0;20 1.147 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTC1 gene CTC1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Bone marrow failure;Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres;Cerebroretinal microangiopathy with calcifications and cysts, 612199 22267198;32086639;32048120 False 3 0;75;25 1.147 False ENSG00000178971 ENSG00000178971 HGNC:26169 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;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type V;interstitual lung disease;autoimmunity;lymphadenopathy;T cell lymphopenia;Combined immunodeficiency;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;Diseases of Immune Dysregulation;Early-onset multi-organ autoimmune disease;Autoimmune lymphoproliferative syndrome, type V 616100;hypogammaglobulinaemia;enteropathy;Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections;CVID 25213377;25329329 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma;Severe combined immunodeficiency due to CTPS1 deficiency;Immunodeficiency 24, 615897;Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH );Diseases of Immune Dysregulation 9536098;24870241;27638562;26424649;17576681 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe periodontitis;Periodontitis, palmoplantar hyperkeratosis in some patients;Congenital defects of phagocyte number or function;Haim-Munk syndrome, 245010;palmoplantar keratoderma;Papillon-Lefevre syndrome, 245000 10593994;10662807;11106356 False 3 100;0;0 1.147 False ENSG00000109861 ENSG00000109861 HGNC:2528 CXCL8 gene CXCL8 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown 15585888;32161940;3244677 False 3 100;0;0 1.147 False ENSG00000169429 ENSG00000169429 HGNC:6025 CXCR4 gene CXCR4 Congenital neutropaenia v1.22;ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myelokathexis, isolated;Warts hypogammaglobulinemia infections and myelokathexis (WHIM);WHIM syndrome, 193670;WHIM syndrome;Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia;Defects in Intrinsic and Innate Immunity 12692554;15536153 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease (CGD);Congenital defects of phagocyte number or function;Infections, autoinflammatory phenotype;Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690 10759707;12073015;2243141;1415254;18422995 False 3 100;0;0 1.147 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 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chronic granulomatous disease, X-linked, 306400;Defects with susceptibility to mycobacterial infection (MSMD);Congenital defects of phagocyte number or function;Immunodeficiency 34, mycobacteriosis, X-linked, 300645;Chronic granulomatous disease (CGD);Isolated susceptibility to mycobacteria;Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus;Defects in Intrinsic and Innate Immunity 1710153;2556453;17293536 False 3 100;0;0 1.147 False ENSG00000165168 ENSG00000165168 HGNC:2578 DAG1 gene DAG1 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000173402 ENSG00000173402 HGNC:2666 DBR1 gene DBR1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research 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 50;50;0 1.147 False ENSG00000138231 ENSG00000138231 HGNC:15594 DCLRE1B gene DCLRE1B 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 8, OMIM:620133 20479256 False 3 100;0;0 1.147 False ENSG00000118655 ENSG00000118655 HGNC:17641 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type, 602450;Severe combined immunodeficiency, Athabascan type;DCLRE1C (Artemis) deficiency;Combined immunodeficiency;Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;Nl NK, radiation sensitive;T-B+ SCID;Omenn syndrome;Severe combined immunodeficiency (SCID);T-B- SCID False 3 100;0;0 1.147 False ENSG00000152457 ENSG00000152457 HGNC:17642 DEF6 gene DEF6 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal DEF6 deficiency;Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections;Diseases of Immune Dysregulation 32086639;31308374;32048120 False 3 50;50;0 1.147 False ENSG00000023892 ENSG00000023892 HGNC:2760 DICER1 gene DICER1 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000100697 ENSG00000100697 HGNC:17098 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 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked 305000;Severe phenotype with DD and cerebellar hypoplasia;Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients;Combined immunodeficiencies with associated or syndromic features;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 9590285;10583221;10217077;9590276 False 3 100;0;0 1.147 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 3, 617052;Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure;Shwachman-Diamond syndrome-like;Congenital defects of phagocyte number or function 27346687;29700810;28062395 False 3 75;25;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Systemic lupus erythematosus 16, 614420;Autoinflammatory Disorders;Diseases of Immune Dysregulation;familial early-onset SLE;Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis 27821515;23666765;22019780;32086639;32048120 False 3 0;100;0 1.147 False ENSG00000163687 ENSG00000163687 HGNC:2959 DNASE2 gene DNASE2 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopenia syndrome, OMIM:619858 29259162;31775019 False 3 75;25;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16;Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860;Immunodeficiency centromeric instability facial anomalies syndrome (ICF);Immunodeficiency-centromeric instability-facial anomalies syndrome 1;Combined immunodeficiencies with associated or syndromic features 10647011 False 3 100;0;0 1.147 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Dock 2 deficiency, Immunodeficiency 40;Immunodeficiencies affecting cellular and humoral immunity;Immunodeficiency 40, 616433;Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells 28694805;26083206;29503648 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive 243700;Combined immunodeficiency;Hyper-IgE recurrent infection syndrome, autosomal recessive;Hyper IgE syndrome (HIES);Immunodeficiencies affecting cellular and humoral immunity;Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis;Hyper-IgE recurrent infection syndrome;impaired T cell function, Atopy, cutaneous viral infections 25724123;19776401;20004785;25627830 False 3 100;0;0 1.147 False ENSG00000107099 ENSG00000107099 HGNC:19191 EFL1 gene EFL1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Congenital neutropenias;Congenital defects of phagocyte number or function;Shwachman-Diamond Syndrome, 617941 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000140598 ENSG00000140598 HGNC:25789 EGFR gene EGFR Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown 28390872;31616667;8523580;28404843;20844577 False 3 0;0;0 1.147 False ENSG00000146648 ENSG00000146648 HGNC:3236 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital neutropenia;Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia;Neutropenia, cyclic, 162800;Cyclic neutropenia;Congenital defects of phagocyte number or function;Neutropenia, severe congenital 1;Neutropenia, severe congenital 1, autosomal dominant, 202700 False 3 100;0;0 1.147 False ENSG00000197561 ENSG00000197561 HGNC:3309 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Vici syndrome;Vici syndrome due to EPG5 deficiency;Vici syndrome, 242840;Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis;Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum;syndromic phenotype (immunodeficiency variable);Combined immunodeficiencies with associated or syndromic features 23222957;23838600;25331754;26395118;23674064;26917586;28624465 False 3 100;0;0 1.147 False ENSG00000152223 ENSG00000152223 HGNC:29331 ERBIN gene ERBIN Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ERBIN deficiency;Combined immunodeficiencies with associated or syndromic features;Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some 28126831;32086639;32048120 False 3 50;50;0 1.147 False ENSG00000112851 ENSG00000112851 HGNC:15842 ERCC4 gene ERCC4 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272;Bone marrow failure;Fanconi Anemia Type Q;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, 615715;Combined immunodeficiencies with associated or syndromic features;Facial dysmorphism, microcephaly, bone marrow failure 27185855;24507776 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;EXTL3 deficiency;Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay;Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 28132690;28148688 False 3 100;0;0 1.147 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angioedema, hereditary, 3, OMIM:610618 17186468;16638441;19178938 False 3 100;0;0 1.147 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 FAAP24 gene FAAP24 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal EBV infection-driven lymphoproliferative disease;Diseases of Immune Dysregulation 32086639;27473539;32048120 False 3 0;0;100 1.147 False ENSG00000131944 ENSG00000131944 HGNC:28467 FADD gene FADD 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal para-infectious encephalopathy and hepatopathy;Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction;Diseases of Immune Dysregulation;invasive pneumococcal disease;cardiovascular malformations;Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759;functional hyposplenism;ALPS-like disease 21109225;17656375;25794656 False 3 100;0;0 1.147 False ENSG00000168040 ENSG00000168040 HGNC:3573 FANCA gene FANCA Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fanconi anemia, complementation group B, 300514 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, 227645 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2, 227646 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E, 600901 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Fanconi anemia, complementation group F, 603467;Fanconi Anemia Type F;Bone marrow failure 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, 614082 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Fanconi Anemia Type I;Bone marrow failure 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, 614083 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000115392 ENSG00000115392 HGNC:20748 FANCM gene FANCM Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bone marrow failure;Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage;Fanconi Anemia Type M 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000187790 ENSG00000187790 HGNC:23168 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;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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;Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS);Autoimmune lymphoproliferative syndrome type IA, 601859;Autoimmune lymphoproliferative syndrome (ALPS) 10709732;15459302;26258116;8929361;9927496;7540117;28668589;9028321;9821419 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IB, 601859;Diseases of Immune Dysregulation;Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG);Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated;Autoimmune lymphoproliferative syndrome (ALPS) 17605793;8787672;20301287;27848183 False 3 100;0;0 1.147 False ENSG00000117560 ENSG00000117560 HGNC:11936 FAT4 gene FAT4 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features;Combined immunodeficiencies with associated or syndromic features;Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 24913602;25616299;29681106 False 3 100;0;0 1.147 False ENSG00000196159 ENSG00000196159 HGNC:23109 FCGR2A gene FCGR2A ESID Registry 20171117;Expert Review Green;Literature COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fc receptor deficiencies;Severity of severe acute respiratory syndrome (SARS)-Cov infection 16185324;19494086;12752683 False 3 33;33;33 1.147 False ENSG00000143226 ENSG00000143226 HGNC:3616 FCGR3A gene FCGR3A ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV);CD16 deficiency;predisposition to severe viral infection;Immunodeficiency 20, 615707;Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity;Defects in Intrinsic and Innate Immunity;Fc receptor deficiencies 8609432;23006327;32086639;8608639;32048120;8874200 False 3 33;67;0 1.147 False ENSG00000203747 ENSG00000203747 HGNC:3619 FCHO1 gene FCHO1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research 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 1.147 False ENSG00000130475 ENSG00000130475 HGNC:29002 FCN3 gene FCN3 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Respiratory infections, abscesses;Complement Deficiencies;Ficolin3 deficiency;Immunodeficiency due to ficolin 3 deficiency, 613860 25662573;19535802;32086639;32048120;20971976;22226667 False 3 0;0;100 1.147 False ENSG00000142748 ENSG00000142748 HGNC:3625 FERMT1 gene FERMT1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal FERMT1 deficiency (Kindler syndrome);Kindler syndrome, 173650;Diseases of Immune Dysregulation;Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling 32086639;32048120;21936020 False 3 50;50;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal LAD type 1 plus bleeding tendency;LAD;Congenital defects of phagocyte number or function;Leukocyte adhesion deficiency, type III, 612840 26729028;27749372;12511588;17185466;19234463;21441448;20357244 False 3 100;0;0 1.147 False ENSG00000149781 ENSG00000149781 HGNC:23151 FOXN1 gene FOXN1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2024;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research 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 28636882;15180707;21507891;11159512;31447097;10206641;28077132;29593714 False 3 67;17;17 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females FOXP3 deficiency (IPEX);Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome;Diseases of Immune Dysregulation;Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790;IPEX;Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA 17635943;11120765;11295725;16741580;14671208 False 3 100;0;0 1.147 False ENSG00000049768 ENSG00000049768 HGNC:6106 FPR1 gene FPR1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Periodontitis only;Congenital defects of phagocyte number or function;Periodontitis;Localized juvenile peridontitis 20203610;28371599;8224916;29105764;2910576;10882119;32086639;32048120 False 3 50;50;0 1.147 False ENSG00000171051 ENSG00000171051 HGNC:3826 FPR2 gene FPR2 ESID Registry 20171117;Expert Review Green COVID-19 research Viral research Unknown Localized juvenile peridontitis 31908042;28928730;27034344;29738458;31398292;29127186 False 3 25;50;25 1.147 False ENSG00000171049 ENSG00000171049 HGNC:3827 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs;Congenital neutropenia;Dursun syndrome, 612541;Severe Congenital Neutropenia;Neutropenia, severe congenital 4, autosomal recessive, 612541;Congenital defects of phagocyte number or function;Neutropenia, severe congenital 4 19118303;20616219 False 3 100;0;0 1.147 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Infections;haemolytic anaemia;Congenital defects of phagocyte number or function;Susceptibility to viral infection;chronic granulomatous disease-like susceptibility to infection;Glucose-6-phosphate dehydrogenase deficiency (G6PD) 18269318;3681550;26694452;12130518;27914961;27458052 False 3 100;0;0 1.147 False ENSG00000160211 ENSG00000160211 HGNC:4057 GATA1 gene GATA1 Congenital neutropaenia v1.22;Expert Review Green;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females neutropenia;dyserythropoietic anaemia;thrombocytopenia;Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 16783379;22706301 False 3 100;0;0 1.147 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema;Congenital neutropenia;Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections;Immunodeficiency 21,614172;Congenital defects of phagocyte number or function;Monocytopenia and mycobacterial infection (MonoMAC);Monocytopenia with susceptibility to infections 29588856;21670465;21765025;2543925;29724903 False 3 100;0;0 1.147 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, severe congenital 2;Congenital neutropenia;Severe congenital 2, autosomal dominant, 613107;Congenital defects of phagocyte number or function;Neutropenia, nonimmune chronic idiopathic, of adults, 607847;Severe congenital neutropenia;B/T lymphopenia;Chronic non-immune neutropenia of adults False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 55, 617827;NK cell deficiency;chronic neutropenia;Neutropenia, IUGR, NK cells very low;GINS1 deficiency;Combined immunodeficiencies with associated or syndromic features;intrauterine growth retardation 28414293 False 3 100;0;0 1.147 False ENSG00000101003 ENSG00000101003 HGNC:28980 HAVCR1 gene HAVCR1 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown 29321304;21536871;23084921;29437974;9658108 False 3 100;0;0 1.147 False ENSG00000113249 ENSG00000113249 HGNC:17866 HAVCR2 gene HAVCR2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Tim-3 deficiency;T-cell lymphoma, subcutaneous panniculitis-like, HLH;T-cell lymphoma, subcutaneous panniculitis-like, 618398;Autoinflammatory Disorders 30792187;32086639;32048120;30374066 False 3 50;50;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Congenital neutropenia;Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia;Neutropenia, severe congenital 3, autosomal recessive, 610738;Congenital defects of phagocyte number or function;Severe congenital neutropenia;Neutropenia, severe congenital 3 False 3 100;0;0 1.147 False ENSG00000143575 ENSG00000143575 HGNC:16915 HDAC6 gene HDAC6 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000094631 ENSG00000094631 HGNC:14064 HELLS gene HELLS Expert Review Green;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal ICF;Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911;ICF4;Combined immunodeficiencies with associated or syndromic features;Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16;Immunodeficiency-centromeric instability-facial anomalies syndrome 28128455;27328760;17726103;29339483;11711429;26216346;14517253;16395332 False 3 100;0;0 1.147 False ENSG00000119969 ENSG00000119969 HGNC:4861 HLA-B gene HLA-B Expert Review Green;Literature COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection;Susceptibility to SARS-CoV 12969506;15243926;18186801;14595411;15839463;18540051;32303592 False 3 100;0;0 1.147 False ENSG00000234745 ENSG00000234745 HGNC:4932 HLA-DRB1 gene HLA-DRB1 Expert Review Green;Literature COVID-19 research Viral research Unknown 19445991;26456283;19597844;10823757;29315655;27512511 False 3 100;0;0 1.147 False Other ENSG00000196126 ENSG00000196126 HGNC:4948 HMOX1 gene HMOX1 Expert Review Green;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal amyloidosis;Hemolysis, nephritis, inflammation;Defects in Intrinsic and Innate Immunity 21088618;9884342 False 3 0;0;100 1.147 False ENSG00000100292 ENSG00000100292 HGNC:5013 HPS1 gene HPS1 Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal inflammatory bowel disease;oculocutaneous albinism;Hermansky-Pudlak syndrome 1;bleeding;pulmonary fibrosis 9562579 False 3 50;25;25 1.147 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, 614073 False 3 50;25;25 1.147 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, 614075 False 3 50;25;25 1.147 False ENSG00000166189 ENSG00000166189 HGNC:18817 HTRA2 gene HTRA2 Congenital neutropaenia v1.22;Expert Review Green;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, 617248;early onset neurological syndrome;neutropenia 27696117;27208207 False 3 100;0;0 1.147 False ENSG00000115317 ENSG00000115317 HGNC:14348 HYOU1 gene HYOU1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hypoglycemia, inflammatory complications;Congenital defects of phagocyte number or function 32086639;32048120 False 3 0;0;100 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency;Isolated IgG subclass deficiency;gammaglobulinaemia;Immunodeficiency, common variable, 1, 607594;Immunodeficiencies affecting cellular and humoral immunity;Common variable immunodeficiency disorders (CVID);hypogammaglobulinaemia;Immunodeficiency, common variable, 1;Recurrent infections, autoimmunity, gastroenteritis, granulomas 15507387;12577056;29867948;29226302;24795713;26399252;25678089;19380800;28861081;10413651;29226301 False 3 100;0;0 1.147 False ENSG00000163600 ENSG00000163600 HGNC:5351 ICOSLG gene ICOSLG Expert Review Green;IUIS Classification December 2019;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiencies affecting cellular and humoral immunity;Recurrent bacterial and viral infections 32086639;32048120;30498080 False 3 0;33;67 1.147 False ENSG00000160223 ENSG00000160223 HGNC:17087 IFIH1 gene IFIH1 Expert Review Green;GRID V2.0;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research 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;28606988;28716935 False 3 100;0;0 1.147 False Other - please provide details in the comments ENSG00000115267 ENSG00000115267 HGNC:18873 IFITM3 gene IFITM3 Expert Review Green;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal {Influenza, severe, susceptibility to}, 614680 32348495;23361009;22446628;18505827;20064371;27384652;23361009;25942469 False 3 100;0;0 1.147 False ENSG00000142089 ENSG00000142089 HGNC:5414 IFNA1 gene IFNA1 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000197919 ENSG00000197919 HGNC:5417 IFNAR1 gene IFNAR1 Expert Review Green;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal IFNAR1 associated adverse reactions to certain live attenuated viral vaccines 31270247;26676772;20020050 False 3 50;50;0 1.147 False ENSG00000142166 ENSG00000142166 HGNC:5432 IFNAR2 gene IFNAR2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 45, 616669;Severe viral infections (disseminated vaccine-strain measles, HHV6);Defects in Intrinsic and Innate Immunity 32086639;32048120;26424569 False 3 0;0;100 1.147 False ENSG00000159110 ENSG00000159110 HGNC:5433 IFNE gene IFNE Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000184995 ENSG00000184995 HGNC:18163 IFNG gene IFNG Expert Review Green;OMIM COVID-19 research Viral research Unknown {AIDS, rapid progression to} 609423;{Hepatitis C virus, response to therapy of} 609532 17981204;17215375;12854077;26458193 False 3 50;50;0 1.147 False ENSG00000111537 ENSG00000111537 HGNC:5438 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 COVID-19 research Viral research BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Immunodeficiency 27A, (AR) 209950;Susceptibility to mycobacteria and Salmonella;Mycobacteriosis;Defects with susceptibility to mycobacterial infection (MSMD);Defects in Intrinsic and Innate Immunity;Immunodeficiency 27B, (AD) 615978 8960473;8960475;9389728;9497247 False 3 100;0;0 1.147 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Susceptibility to mycobacteria and Salmonella;Defects with susceptibility to mycobacterial infection (MSMD);Immunodeficiency 28, Mycobacteriosis, 614889;Defects in Intrinsic and Innate Immunity 9616207;18625743;30264912;15924140 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 1;Agammaglobulinemia;Severe bacterial infections, normal numbers of pro-B cells;Predominantly Antibody Deficiencies;Agammaglobulinemia 1, 601495 8890099;12370281 False 3 100;0;0 1.147 False ENSG00000211899 ENSG00000211899 HGNC:5541 IGKC gene IGKC ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunoglobulin chain deficiencies;Kappa light chain deficiency, 614102;Asymptomatic;Predominantly Antibody Deficiencies 32086639;32048120;4185453 False 3 0;100;0 1.147 False ENSG00000211592 ENSG00000211592 HGNC:5716 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia;Severe bacterial infections, normal numbers of pro-B cells;Agammaglobulinemia 2, 613500;Agammaglobulinemia 2;Predominantly Antibody Deficiencies 27576013;9419212;25502423 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 25216719;24369075;30337470 False 3 80;20;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301;Immunodeficiency 33, 300636;Invasive pneumococcal disease, recurrent isolated, 2,300640;Defects of TLR/NFkappa-B signalling;Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction;Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291;Combined immunodeficiencies with associated or syndromic features;Immunodeficiency, isolated, 300584 11047757 False 3 100;0;0 1.147 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 13, 616873;IKAROS deficiency;Immunodeficiency, common variable 13;Predominantly Antibody Deficiencies;Recurrent sinopulmonary infections 29889099;21548011;26981933 False 3 80;20;0 1.147 False ENSG00000185811 ENSG00000185811 HGNC:13176 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Diseases of Immune Dysregulation;Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 22476154;21519361;29059189;28864178;19890111;29788474;29248579;29140941 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset, autosomal recessive,612567;Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome;Diseases of Immune Dysregulation;IBD, folliculitis, recurrent respiratory diseases, arthritis, lymphoma 21519361;19890111;27350736;27302973;28785144 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Susceptibility to mycobacteria and Salmonella;Immunodeficiency 29, mycobacteriosis, 614890;Defects with susceptibility to mycobacterial infection (MSMD);Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency;Defects in Intrinsic and Innate Immunity 11753820;24127073;9854038;15322986 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Susceptibility to mycobacteria and Salmonella;Immunodeficiency 30, 614891;Defects with susceptibility to mycobacterial infection (MSMD);Defects in Intrinsic and Innate Immunity 11424023;15736007;9603733;21487897;15178580;12594833 False 3 100;0;0 1.147 False ENSG00000096996 ENSG00000096996 HGNC:5971 IL12RB2 gene IL12RB2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects in intrinsic and innate immunity;Mendelian susceptibility to mycobacterial disease;IL-12Rb2 deficiency 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000081985 ENSG00000081985 HGNC:5972 IL17A gene IL17A Expert Review Green;GRID V2.0 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthritis;Immunodeficiency 5;Susceptibility to influenza 28860146;31196204;27890033;21703407;27155288;29530464 False 3 33;33;33 1.147 False ENSG00000112115 ENSG00000112115 HGNC:5981 IL17F gene IL17F ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CMC, folliculitis;Candidiasis, familial, 6, 613956;Defects in Intrinsic and Innate Immunity;Chronic mucocutaneous candidiasis (CMC) 32086639;32048120;21350122 False 3 0;50;50 1.147 False ENSG00000112116 ENSG00000112116 HGNC:16404 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 5;Chronic mucocutaneous candidiasis (CMC);Immunodeficiency 51, 613953;CMC, folliculitis;Defects in Intrinsic and Innate Immunity 27930337;29076381;21350122 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 9 616445;Chronic Mucocutaneous Candidiasis;CMC;Defects in Intrinsic and Innate Immunity 29076381;25918342 False 3 100;0;0 1.147 False ENSG00000163702 ENSG00000163702 HGNC:18358 IL18BP gene IL18BP Expert Review Green;IUIS Classification December 2019;Literature COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {?Hepatitis, fulminant viral, susceptibility to} 618549;Defects in intrinsic and innate immunity;IL-18BP deficiency;inborn errors of immunity related to leukocytes 32086639;32048120;31213488;32285199;28900426 False 3 67;33;0 1.147 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000137496 ENSG00000137496 HGNC:5987 IL1RN gene IL1RN 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, OMIM:612852;Sterile multifocal osteomyelitis, periostitis, and pustulosis;DIRA;Autoinflammatory Disorders 19494219;19494218 False 3 100;0;0 1.147 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL21 gene IL21 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 11, 615767;Severe early onset colitis, recurrent sinopulmonary infections;Immunodeficiencies affecting cellular and humoral immunity 32086639;24746753;32048120 False 3 0;100;0 1.147 False ENSG00000138684 ENSG00000138684 HGNC:6005 IL21R gene IL21R 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56, OMIM:615207;Atypical Severe Combined Immunodeficiency (Atypical SCID);Combined immunodeficiency;Omenn syndrome;Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease;Immunodeficiencies affecting cellular and humoral immunity 23440042;12700598 False 3 100;0;0 1.147 False ENSG00000103522 ENSG00000103522 HGNC:6006 IL23R gene IL23R Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects in intrinsic and innate immunity;Mendelian susceptibility to mycobacterial disease;IL-23R deficiency 32086639;32048120 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367;Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype);Diseases of Immune Dysregulation;Interleukin-2 receptor, alpha chain, deficiency of;Omenn syndrome;Lymphoproliferation, autoimmunity, impaired T cell proliferation 23416241;9096364;17196245;24116927 False 3 100;0;0 1.147 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections;Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495;CD122 deficiency 32086639;31040185;32048120;31040184 False 3 50;50;0 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe combined immunodeficiency, X-linked;Combined immunodeficiency, X-linked, moderate;Severe Combined Immune Deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;SCID;Severe combined immunodeficiency, X-linked, 300400;T-B+ SCID;SCID (x-linked);Omenn syndrome;Severe combined immunodeficiency (SCID);Low NK False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Psoriasis 14, pustular, OMIM:614204;Autoinflammatory Disorders 23303454;22903787;23698098 False 3 100;0;0 1.147 False ENSG00000136695 ENSG00000136695 HGNC:15561 IL6 gene IL6 Expert Review Green;OMIM COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Kaposi sarcoma, susceptibility to} 148000 https://doi.org/10.1101/2020.05.02.20084673 False 3 100;0;0 1.147 False ENSG00000136244 ENSG00000136244 HGNC:6018 IL6R gene IL6R Expert Review Green;IUIS Classification December 2019;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Eczema;Recurrent infections;Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels;Hyper-IgE;Combined immunodeficiencies with associated or syndromic features 31235509;32086639;32048120;31778705 False 3 67;33;0 1.147 False ENSG00000160712 ENSG00000160712 HGNC:6019 IL6ST gene IL6ST Expert Review Green;IUIS Classification December 2019;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Eczema;Abnormal acute-phase responses;Recurrent infections;Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis;Eosinophilia;Elevated IgE;Combined immunodeficiencies with associated or syndromic features 31235509;32086639;30309848;28747427;32048120;32207811;12370259;16041381;31914175 False 3 67;33;0 1.147 False ENSG00000134352 ENSG00000134352 HGNC:6021 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive;Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type;Nl NK;Severe Combined Immune Deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Omenn syndrome;Severe combined immunodeficiency (SCID);IL7Ra deficiency False 3 100;0;0 1.147 False ENSG00000168685 ENSG00000168685 HGNC:6024 INO80 gene INO80 Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal severe bacterial infections;Severe bacterial infections;Predominantly Antibody Deficiencies;INO80 deficiency, HIGM 25883595;25312759 False 3 100;0;0 1.147 False ENSG00000128908 ENSG00000128908 HGNC:26956 IRAK1 gene IRAK1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1;Defects in Intrinsic and Innate Immunity 32086639;32048120;28069966 False 3 0;0;100 1.147 False ENSG00000184216 ENSG00000184216 HGNC:6112 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects with susceptibility to mycobacterial infection (MSMD);Defects of TLR/NFkappa-B signalling;Invasive pneumococcal disease, recurrent isolated, 1, 6107;IRAK4 deficiency, 610799;Defects in Intrinsic and Innate Immunity;Bacterial infections (pyogens) 17878374;17114497;12637671;16950813 False 3 100;0;0 1.147 False ENSG00000198001 ENSG00000198001 HGNC:17967 IRF1 gene IRF1 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000125347 ENSG00000125347 HGNC:6116 IRF2 gene IRF2 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000168310 ENSG00000168310 HGNC:6117 IRF2BP2 gene IRF2BP2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent infections, possible autoimmunity and inflammatory disease;Predominantly Antibody Deficiencies;CVID;Immunodeficiency, common variable, 14, MIM# 617765 27016798;32086639;32048120;31953710 False 3 0;0;100 1.147 False ENSG00000168264 ENSG00000168264 HGNC:21729 IRF3 gene IRF3 Expert list;Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532;{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM616532;Herpes simplex virus 1 encephalitis;Defects in Intrinsic and Innate Immunity 32086639;26513235;32048120;26216125 False 3 0;100;0 1.147 False ENSG00000126456 ENSG00000126456 HGNC:6118 IRF4 gene IRF4 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Defects in intrinsic and innate immunity;IRF4 haploinsufficiency;inborn errors of immunity related to leukocytes 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000137265 ENSG00000137265 HGNC:6119 IRF5 gene IRF5 Expert list;Expert Review Green COVID-19 research Viral research Unknown 17360658;32075938;29375210;29079574;21240265;30457675;27350041;31260698;27066744 False 3 0;0;0 1.147 False ENSG00000128604 ENSG00000128604 HGNC:6120 IRF7 gene IRF7 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Literature;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe influenza;?Immunodeficiency 39, 616345;Severe influenza disease;IRF7 deficiency;Defects in Intrinsic and Innate Immunity 26761402;9315633;32086639;25814066;32048120;26621750;31154625;26621750 False 3 0;100;0 1.147 False ENSG00000185507 ENSG00000185507 HGNC:6122 IRF8 gene IRF8 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990;Susceptibility to mycobacteria and multiple other infectious agents;Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893;Defects with susceptibility to mycobacterial infection (MSMD);Susceptibility to mycobacteria;familial NK cell deficiency;Defects in Intrinsic and Innate Immunity 25122610;22464253;21524210;22046141;27893462 False 3 100;0;0 1.147 False ENSG00000140968 ENSG00000140968 HGNC:5358 IRF9 gene IRF9 Expert Review;Expert Review Green COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 65, susceptibility to viral infections, 618648 30143481;30826365 False 3 50;50;0 1.147 False ENSG00000213928 ENSG00000213928 HGNC:6131 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38, 616126;idiopathic basal ganglia calcification;Defects with susceptibility to mycobacterial infection (MSMD);Susceptibility to mycobacteria, brain calcifications;Defects in Intrinsic and Innate Immunity 22859821;23579383;25307056 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal 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;Autoimmune disease, multisystem, with facial dysmorphism, 613385;Syndromic multisystem autoimmune disease due to Itch deficiency;Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) 26854353;27322655;20962770;19592251;20170897 False 3 100;0;0 1.147 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGAV gene ITGAV Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000138448 ENSG00000138448 HGNC:6150 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Delayed cord separation, skin ulcers, periodontitis, leukocytosis;Leukocyte adhesion deficiency type I;Congenital defects of phagocyte number or function;LAD;Leukocyte adhesion deficiency, 116920 1346613;1968911;1694220;7472832 False 3 100;0;0 1.147 False ENSG00000160255 ENSG00000160255 HGNC:6155 ITGB3 gene ITGB3 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000259207 ENSG00000259207 HGNC:6156 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG;Combined immunodeficiency;Diseases of Immune Dysregulation;ITK deficiency (HLH phenotype);EBV viraemia, HLH;Lymphoproliferative syndrome 1 21109689;19425169;22289921 False 3 100;0;0 1.147 False ENSG00000113263 ENSG00000113263 HGNC:6171 ITPKC gene ITPKC Expert Review Green;Literature;Research COVID-19 research Viral research Unknown Kawasaki disease, susceptibility to, 611775 18084290;20045869;32200494 False 3 0;100;0 1.147 False ENSG00000086544 ENSG00000086544 HGNC:14897 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Congenital neutropenia;Myeloid maturation arrest, osteopenia;Congenital defects of phagocyte number or function;Neutropenia, severe congenital;Neutropenia, severe congenital, 6, autosomal recessive,616022;severe congenital neutropenia 25129144 False 3 100;0;0 1.147 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK1 gene JAK1 Expert Review Green;IUIS Classification December 2019;IUIS Classification December 2025;IUIS Classification February 2018 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypereosinophilic syndrome;HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections;Diseases of Immune Dysregulation;Susceptibility to mycobacteria and viruses, urothelial carcinoma;Defects in Intrinsic and Innate Immunity;HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections 28111307;32086639;32048120 False 3 50;0;50 1.147 False Other - please provide details in the comments 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type;Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative;Severe Combined Immune Deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;JAK3 deficiency;T-B+ SCID;Omenn syndrome;Severe combined immunodeficiency (SCID);Low NK False 3 100;0;0 1.147 False ENSG00000105639 ENSG00000105639 HGNC:6193 KDM6A gene KDM6A Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Combined immunodeficiencies with associated or syndromic features;Kabuki Syndrome 2 due to KDM6A deficiency;Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present 25142838;25546742;26411453;32086639;15887282;15523604;32048120 False 3 0;100;0 1.147 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0319L gene KIAA0319L Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000142687 ENSG00000142687 HGNC:30071 KLF2 gene KLF2 Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000127528 ENSG00000127528 HGNC:6347 KMT2A gene KMT2A ESID Registry 20171117;Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wiedemann-Steiner syndrome with Congenital immunodeficiency;Unclassified antibody deficiency;Combined immunodeficiencies with associated or syndromic features;Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability 32086639;32048120;27320412 False 3 0;50;50 1.147 False ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2D gene KMT2D Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kabuki syndrome 1, 147920;Combined immunodeficiencies with associated or syndromic features;Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present 25142838;26411453;32086639;15887282;15523604;32048120 False 3 0;0;100 1.147 False ENSG00000167548 ENSG00000167548 HGNC:7133 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure;Congenital neutropenia;Congenital defects of phagocyte number or function;Primary immunodeficiency syndrome due to p14 deficiency;Immunodeficiency due to defect in MAPBP-interacting protein, 610798 22427693;17195838;24092934;28593997 False 3 100;0;0 1.147 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;SCID v1.6 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiencies affecting cellular and humoral immunity;Immunodeficiency 52, 617514;Adenopathy, splenomegaly, recurrent infections, autoimmunity 27522155;27242165 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to LCK deficiency;Recurrent infections, immune dysregulation, autoimmunity;Combined immunodeficiency;Immunodeficiency 22, 615758;Immunodeficiencies affecting cellular and humoral immunity;LCK deficiency 11351273;9664084;22985903 False 3 100;0;0 1.147 False ENSG00000182866 ENSG00000182866 HGNC:6524 LIG1 gene LIG1 Emory Genetics Laboratory;Expert Review;Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;Literature;Other COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal DNA ligase I deficiency;Combined immunodeficiencies with associated or syndromic features;DNA-ligase 1 ATP-dependent deficiency (LIG1);Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity 30395541;1581963;32086639;32048120 False 3 0;67;33 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;LIG4 syndrome;DNA ligase IV deficiency;Nl NK, radiation sensitive, microcephaly;Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450;Severe combined immunodeficiency (SCID);T-B- SCID;LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500;Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628;Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders;Autoinflammatory Disorders 17330256;29387759;27860302;15994876 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Unclassified antibody deficiency;Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections;Diseases of Immune Dysregulation;Immunodeficiency, common variable, 8, with autoimmunity, 614700 25468195;22608502;22721650 False 3 100;0;0 1.147 False ENSG00000198589 ENSG00000198589 HGNC:1742 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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;9215680;10482950;8896560 False 3 100;0;0 1.147 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAD2L2 gene MAD2L2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal ?Fanconi anemia, complementation group V, 617243 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000116670 ENSG00000116670 HGNC:6764 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;Victorian Clinical Genetics Services COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function;Combined immunodeficiency;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia;Immunodeficiency, X-linked, with magnesium defect;Diseases of Immune Dysregulation;Epstein-Barr virus infection and neoplasia (XMEN);EBV infection, lymphoma, viral infections, respiratory and GI infections;XMEN syndrome 21796205;25504528;25205404;24550228;23846901;27095930;23871722;21983175;25956530 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bacterial, fungal and viral infections;Immunodeficiency 12 615468;Immunodeficiencies affecting cellular and humoral immunity;Combined immunodeficiency 25627829;24332264;23727036 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections;Recessive Atypical Combined Immunodeficiency;Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity;Immunodeficiencies affecting cellular and humoral immunity;Immunodeficiency 112, OMIM:620449 29230214;25406581;29259025 False 3 100;0;0 1.147 False ENSG00000006062 ENSG00000006062 HGNC:6853 MASP2 gene MASP2 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Literature;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal MASP2 deficiency 613791;Mannan-binding lectin serine protease (MASP) deficiency;Complement Deficiencies;Not associated with SARS-CoV susceptibility;Pyogenic infections, inflammatory lung disease, autoimmunity 24658431;32086639;32048120;19405982 False 3 0;50;50 1.147 False ENSG00000009724 ENSG00000009724 HGNC:6902 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Predisposition to several viral infection;Immunodeficiency 54, 609981;MCM4 deficiency;NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure;Natural killer cell and glucocorticoid deficiency with DNA repair defect 22354167;22499342;22354170;16532402 False 3 100;0;0 1.147 False ENSG00000104738 ENSG00000104738 HGNC:6947 MEFV gene MEFV 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 COVID-19 research Viral research 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 11242116;14679589;9668175;9288094;10787449;10090880;11903360 False 3 100;0;0 1.147 False ENSG00000103313 ENSG00000103313 HGNC:6998 MKL1 gene MKL1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Susceptibility to severe bacterial infection;Mild thrombocytopenia;Congenital defects of phagocyte number or function 26224645;32086639;32048120 False 3 0;0;100 1.147 False ENSG00000196588 ENSG00000196588 HGNC:14334 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb);Congenital disorder of glycosylation, type IIb 606056;Predominantly Antibody Deficiencies 24716661;29235540;10788335 False 3 100;0;0 1.147 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPO gene MPO ESID Registry 20171117;Expert Review Green;GRID V2.0 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Myeloperoxidase deficiency 254600 9354683;15108282;9637725;32082301;27574522;21703402;29325098;29769163;24968347;32227102 False 3 25;50;25 1.147 False ENSG00000005381 ENSG00000005381 HGNC:7218 MS4A1 gene MS4A1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections;Common variable immunodeficiency disorders (CVID);Predominantly Antibody Deficiencies;Immunodeficiency, common variable, 5 613495 27250108;32086639;32048120;20038800 False 3 0;33;67 1.147 False ENSG00000156738 ENSG00000156738 HGNC:7315 MSH6 gene MSH6 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Colorectal cancer, hereditary nonpolyposis, type 5 614350;Endometrial cancer, familial 608089;Family or personal history of cancer;Predominantly Antibody Deficiencies;Mismatch repair cancer syndrome 276300 32086639;32048120 False 3 0;0;100 1.147 False ENSG00000116062 ENSG00000116062 HGNC:7329 MSN gene MSN ESID Registry 20171117;Expert list;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined immunodeficiency;Immunodeficiency 50, MIM300988;Immunodeficiency 50, 300988;Immunodeficiencies affecting cellular and humoral immunity;Recurrent infections with bacteria, varicella, neutropenia 29556235;27405666 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive;Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780;Combined immunodeficiencies with associated or syndromic features;Defects of Vitamin B12 and Folate metabolism 25633902;27707659 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377;Autoinflammatory Disorders;Periodic fever and leukocytosis with high IgD levels 10369261;16435210 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal recurrent pyogenic bacterial infection;Defects of TLR/NFkappa-B signalling;Defects in Intrinsic and Innate Immunity;Bacterial infections (pyogens);Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260 18669862;23215570 False 3 80;0;20 1.147 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYO5B gene MYO5B Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Diarrhea 2, with microvillus atrophy, OMIM:251850 19006234;18724368 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bone marrow failure;immunodeficiency;Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.;mid-face hypoplasia;MYSM1 deficiency;neurodevelopmental delay;Combined immunodeficiencies with associated or syndromic features 26220525;28115216;26474655;28446309;22184403;24288411 False 3 100;0;0 1.147 False ENSG00000162601 ENSG00000162601 HGNC:29401 NBAS gene NBAS Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 2, 616483;Defects in intrinsic and innate immunity;Fever induced liver failure;Defects in Intrinsic and Innate Immunity;Fever induces liver failure 32086639;32048120 False 3 0;0;100 1.147 False ENSG00000151779 ENSG00000151779 HGNC:15625 NBN gene NBN ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome (NBS1);Nijmegen breakage syndrome 251260;Aplastic anemia 609135;Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability;Combined immunodeficiencies with associated or syndromic features 9590180;12447395;11325820;16415040 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease due to deficiency of NCF-1 233700;Chronic granulomatous disease (CGD);Congenital defects of phagocyte number or function;Infections, autoinflammatory phenotype 16972229;10706888;11133775 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease due to deficiency of NCF-2 233710;Chronic granulomatous disease (CGD);Congenital defects of phagocyte number or function;Infections, autoinflammatory phenotype 9070911;10498624;7795241 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Infections, autoinflammatory phenotype;Congenital defects of phagocyte number or function;?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960;Chronic granulomatous disease (CGD);Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 29969437;19692703 False 3 83;0;17 1.147 False ENSG00000100365 ENSG00000100365 HGNC:7662 NCSTN gene NCSTN Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hidradenitis suppurativa with acne, 142690;Defects in intrinsic and innate immunity;familial hydradenitis suppurativa;Defects in Intrinsic and Innate Immunity;Hidradenitis suppurativa with acne 20929727;32086639;32048120;21412258 False 3 0;100;0 1.147 False ENSG00000162736 ENSG00000162736 HGNC:17091 NFAT5 gene NFAT5 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NFAT5 haploinsufficieny;IBD, recurrent sinopulmonary infections;Diseases of Immune Dysregulation 32086639;32048120 False 3 0;0;100 1.147 False ENSG00000102908 ENSG00000102908 HGNC:7774 NFE2L2 gene NFE2L2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent respiratory and skin infections, growth retardation, , developmental delay;NFE2L2 GOF;increased expression of stress response genes;Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744;Combined immunodeficiencies with associated or syndromic features;white matter cerebral lesions, increased level of homocysteine 32086639;32048120;29018201 False 3 50;50;0 1.147 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Unclassified antibody deficiency;Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis;Common variable immunodeficiency disorders (CVID);Predominantly Antibody Deficiencies;Immunodeficiency, common variable, 12 616576 29477724;26279205 False 3 100;0;0 1.147 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent sinopulmonary infections, alopecia and endorinopathies;Immunodeficiency, common variable, 10 615577;Unclassified antibody deficiency;Hypogammaglobuliaemia;central adrenal insufficiency;immune dysregulation;Common variable immunodeficiency disorders (CVID);Predominantly Antibody Deficiencies 25237204;24140114;25524009;24888602 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Combined immunodeficiencies with associated or syndromic features;Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction;Defects of TLR/NFkappa-B signalling;Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132 18412279;17931563;14523047;15337789 False 3 100;0;0 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291;Nl NK, radiation sensitive, microcephaly;Immunodeficiencies affecting cellular and humoral immunity;Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation;T-B+ SCID;Cernunnos/XLF deficiency;T-B- SCID False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome;Dyskeratosis congenita, autosomal recessive 2 613987;Combined immunodeficiencies with associated or syndromic features;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 25182133;18523010;20301779;20008900;25907943 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 25217960;25217959;25385754;27876626 False 3 100;0;0 1.147 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis, autoimmunity and arthritis;Palmoplantar carcinoma, corneal scarring;Autoinflammation with arthritis and dyskeratosis;Autoinflammatory Disorders 29850521;27662089;31484767;27965258 False 3 50;50;0 1.147 False 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 29248470;29178652;27633793;18230725;27779193 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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;11687797;11992256;29366613;12522564;12032915 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blau syndrome, OMIM:186580;{Inflammatory bowel disease 1, Crohn disease}, OMIM:266600;{Yao syndrome}, OMIM:617321 18955195;15459013;11528384;4056967 False 3 100;0;0 1.147 False ENSG00000167207 ENSG00000167207 HGNC:5331 NOP10 gene NOP10 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita;Dyskeratosis congenita 1;Dyskeratosis congenita, autosomal recessive 1 224230;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;Hoyeraal-Hreidarsson syndrome 17507419 False 3 50;50;0 1.147 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOS2 gene NOS2 Expert list;Expert Review Green COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal 31995689;11207313 False 3 100;0;0 1.147 False ENSG00000007171 ENSG00000007171 HGNC:7873 NSMCE3 gene NSMCE3 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241;Combined immunodeficiencies with associated or syndromic features;Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity 27427983 False 3 100;0;0 1.147 False ENSG00000185115 ENSG00000185115 HGNC:7677 OAS1 gene OAS1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042 32086639;29455859;32048120 False 3 50;50;0 1.147 False 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;immunodeficiency, ectodermal dysplasia and myopathy;Immunodeficiency 9 612782;Autoimmunity, EDA, non-progressive myopathy;T-B+ SCID;Combined immunodeficiencies with associated or syndromic features 16582901;20004786 False 3 80;0;20 1.147 False ENSG00000182500 ENSG00000276045 HGNC:25896 OSTM1 gene OSTM1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity;Osteopetrosis with hypocalcemia, neurologic features 32086639;32048120 False 3 0;100;0 1.147 False ENSG00000081087 ENSG00000081087 HGNC:21652 OTULIN gene OTULIN Expert Review;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099;Fever, diarrhoea, dermatitis;Autoinflammatory Disorders 27559085;27523608 False 3 100;0;0 1.147 False ENSG00000154124 ENSG00000154124 HGNC:25118 PALB2 gene PALB2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, 610832 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000083093 ENSG00000083093 HGNC:26144 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371;Dyskeratosis congenita, autosomal recessive 6 616353;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 25848748;26342108;25893599 False 3 100;0;0 1.147 False ENSG00000140694 ENSG00000140694 HGNC:8609 PAX1 gene PAX1 Expert Review Green;Literature;Other COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2, 615560;Syndromic SCID 28657137;32111619 False 3 100;0;0 1.147 False ENSG00000125813 ENSG00000125813 HGNC:8615 PEPD gene PEPD Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, 170100;Autoantibodies common, chronic skin ulcers, eczema, infections;Diseases of Immune Dysregulation 6637477;19308961;15309682;17142620;8900231;1972707;2365824;16470701 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 615816;Combined immunodeficiencies with associated or syndromic features;Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination;Combined immunodeficiency 24698316;24589341;24931394 False 3 100;0;0 1.147 False ENSG00000013375 ENSG00000013375 HGNC:8907 PIK3CD gene PIK3CD A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2026;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research 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 False 3 100;0;0 1.147 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 list;Expert Review Green COVID-19 research Viral research 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 1.147 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 COVID-19 research Viral research BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Agammaglobulinemia;Severe bacterial infections, decreased or absent pro-B cells;Combined immunodeficiency;Immunodeficiency 36;Activated PI3K-delta syndrome (APDS);immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD);Agammaglobulinemia 7, autosomal recessive, 615214;Agammaglobulinemia 7;Immunodeficiency 36, 616005;Predominantly Antibody Deficiencies;SHORT syndrome, 269880;Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV 25133428;22351933;9888855;25488983 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 29538758;23000145;22236196 False 3 100;0;0 1.147 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 PLEKHM1 gene PLEKHM1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Osteopetrosis;Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity 32086639;32048120 False 3 0;0;100 1.147 False ENSG00000225190 ENSG00000225190 HGNC:29017 PMS2 gene PMS2 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors;Post-Meiotic Segregation 2 (PMS2) deficiency;Mismatch repair cancer syndrome 276300;Combined immunodeficiencies with associated or syndromic features;CSR defects and Hyper IgM (HIGM) syndromes;Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors 7661930;9488480;15077197;32086639;16507833;10763829;32048120 False 3 0;100;0 1.147 False ENSG00000122512 ENSG00000122512 HGNC:9122 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Autoimmune haemolytic anemia, neurological impairment;Immunodeficiency due to purine nucleoside phosphorylase deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);T-B+ SCID;Combined immunodeficiencies with associated or syndromic features False 3 100;0;0 1.147 False ENSG00000198805 ENSG00000198805 HGNC:7892 POLA1 gene POLA1 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research 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 False 3 100;0;0 1.147 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLD1 gene POLD1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiencies affecting cellular and humoral immunity;Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability;Polymerase d 1 deficiency 31449058;32086639;32048120;31629014 False 3 50;50;0 1.147 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLD2 gene POLD2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiencies affecting cellular and humoral immunity;Polymerase d 2 deficiency;Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability 31449058;32086639;32048120 False 3 50;50;0 1.147 False ENSG00000106628 ENSG00000106628 HGNC:9176 POLE gene POLE ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature;Combined immunodeficiencies with associated or syndromic features;FILS syndrome 615139;Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome) 23230001 False 3 0;100;0 1.147 False ENSG00000177084 ENSG00000177084 HGNC:9177 POLE2 gene POLE2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism);Combined immunodeficiencies with associated or syndromic features;Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism 32086639;32048120 False 3 0;0;100 1.147 False ENSG00000100479 ENSG00000100479 HGNC:9178 POLR3A gene POLR3A Expert list;Expert Review Green;IUIS Classification December 2019;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RNA polymerase III deficiency;Severe VZV infection;Predisposition to severe viral infection;Defects in intrinsic and innate immunity 29728610;28783042;32086639;32048120 False 3 67;0;33 1.147 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3C gene POLR3C Expert list;Expert Review Green;IUIS Classification December 2019;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RNA polymerase III deficiency;Severe VZV infection;Predisposition to severe viral infection;Defects in intrinsic and innate immunity 28783042;32086639;32048120 False 3 67;0;33 1.147 False ENSG00000186141 ENSG00000186141 HGNC:30076 POLR3F gene POLR3F Expert list;Expert Review Green;IUIS Classification December 2019;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RNA polymerase III deficiency;Severe VZV infection;Predisposition to severe viral infection;Defects in intrinsic and innate immunity 30211253;32086639;32048120 False 3 100;0;0 1.147 False ENSG00000132664 ENSG00000132664 HGNC:15763 POMP gene POMP Expert Review Green;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteasome-associated autoinflammatory syndrome 2, 618048;CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome);combined immunodeficiency with autoinflammation 29805043;26524591 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias;FHL2;HPLH2;Familial hemophagocytic lymphohistiocytosis syndromes (FHLH);Diseases of Immune Dysregulation;Hemophagocytic lymphohistiocytosis, familial 2, 603553;HLH2 15365097;11179007;15632205;20301617;10583959;14757862;12229880;16860143 False 3 100;0;0 1.147 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRKCD gene PRKCD 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG;Autoimmune lymphoproliferative syndrome, type III 615559;Diseases of Immune Dysregulation;Unclassified antibody deficiency;Immunodeficiency, common variable, 9;Autoimmune lymphoproliferative syndrome (ALPS) 23430113;23319571;23666743 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 26, with or without neurologic abnormalities;DNA Pkcs deficiency;Combined immunodeficiency;Immunodeficiency, with or without neurologic abnormalities;Nl NK, radiation sensitive, microcephaly;Immunodeficiencies affecting cellular and humoral immunity;Severe combined immunodeficiency (SCID) 23722905;19075392;25842288 False 3 100;0;0 1.147 False ENSG00000253729 ENSG00000253729 HGNC:9413 PSEN1 gene PSEN1 Expert Review Green;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hidradenitis suppurative with cutaneous hyperpigmentation;Acne inversa, familial, 3 613737;Defects in Intrinsic and Innate Immunity 20929727 False 3 0;0;100 1.147 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSENEN gene PSENEN Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acne inversa, familial, 2, with or without Dowling-Degos disease 613736;Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity;Hidradenitis suppurativa 23439959;28601418;28287404;23020871;20929727;32086639;21412258;27900998;32048120;28922471 False 3 0;100;0 1.147 False ENSG00000205155 ENSG00000205155 HGNC:30100 PSMB8 gene PSMB8 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2027;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and 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 21129723;21953331;21852578;21881205 False 3 100;0;0 1.147 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMG2 gene PSMG2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Autoinflammatory Disorders;Panniculitis, lipodystrophy, autoimmune hemolytic anemia;CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy) 30664889;32086639;32048120 False 3 50;50;0 1.147 False ENSG00000128789 ENSG00000128789 HGNC:24929 PSTPIP1 gene PSTPIP1 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 COVID-19 research Viral research 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 28628471;28960754;29575118;26025129;28251506 False 3 100;0;0 1.147 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 PTEN gene PTEN Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent infections, Lymphoproliferation, Autoimmunity;Lymphoproliferation, Autoimmunity;developmental delay;Predominantly Antibody Deficiencies 32086639;27426521;32048120 False 3 0;100;0 1.147 False ENSG00000171862 ENSG00000171862 HGNC:9588 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Nl g/d T cells;{Hepatitic C virus, susceptibility to}, 609532;CD45 deficiency;Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Omenn syndrome;Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive;Severe combined immunodeficiency (SCID) 11145714;10700239;22689986 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Diseases of Immune Dysregulation;Partial albinism, fever, HSM, HLH, cytopenias;Griscelli syndrome, type 2 607624 12058346;12531900;12522785;15163896 False 3 100;0;0 1.147 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Reticular dysgenesis;poststreptococcal glomerulonephritis;Congenital defects of phagocyte number or function;Neutrophil immunodeficiency syndrome;RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2);T-B+ SCID;Neutrophil immunodeficiency syndrome 608203;Recurrent sinopulmonary infections, selective IgA defiency;urticaria;T-B- SCID;Poor wound healing, leukocytosis 21167572;30654050;30723080;31071452;25512081;10758162;31382036;10961859 False 3 0;20;80 1.147 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAD51 gene RAD51 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi anemia, complementation group R, 617244 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, 613390 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000108384 ENSG00000108384 HGNC:9820 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Nl NK;Severe combined immunodeficiency, B cell-negative, 601457;Severe Combined Immune Deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Severe combined immunodeficiency, B cell-negative;Omenn syndrome;Severe combined immunodeficiency (SCID);T-B- SCID;RAG1 deficiency False 3 100;0;0 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Nl NK;Severe combined immunodeficiency, B cell-negative, 601457;Severe Combined Immune Deficiency;Atypical Severe Combined Immunodeficiency (Atypical SCID);Immunodeficiencies affecting cellular and humoral immunity;T-B+ SCID;Severe combined immunodeficiency, B cell-negative;Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive;Omenn syndrome;Severe combined immunodeficiency (SCID);T-B- SCID;RAG2 deficiency False 3 100;0;0 1.147 False ENSG00000175097 ENSG00000175097 HGNC:9832 RANBP2 gene RANBP2 Expert Review Green;IUIS Classification December 2019;IUIS Classification December 2028;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fever induces acute encephalopathy;Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000153201 ENSG00000153201 HGNC:9848 RASGRP1 gene RASGRP1 Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma;Immunodeficiency 64, 618534;Diseases of Immune Dysregulation;Immunodeficiency;EBV-induced lymphoma;immunde dysregulation 27776107;28822832;30030704;29282224;29155103 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 23104095;29260357 False 3 100;0;0 1.147 False ENSG00000125826 ENSG00000125826 HGNC:15864 RECQL4 gene RECQL4 ESID Registry 20171117;Expert Review Green COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, 268400;Combined immunodeficiency 16630167;21143835;26064716;30174688 False 3 0;50;50 1.147 False ENSG00000160957 ENSG00000160957 HGNC:9949 REL gene REL Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections;Immunodeficiencies affecting cellular and humoral immunity;c-Rel deficiency 32086639;31103457;32048120 False 3 50;50;0 1.147 False ENSG00000162924 ENSG00000162924 HGNC:9954 RELA gene RELA Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RelA haplosufficiency;Mucosal ulceration, impaired NFkB activation;Mucocutaneous ulceration, chronic, 618287;Immunodeficiencies affecting cellular and humoral immunity 28600438;32086639;32048120;29305315 False 3 50;50;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiencies affecting cellular and humoral immunity;Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity;Recurrent infections;?Immunodeficiency 53, 617585 32086639;32048120;26385063 False 3 0;0;100 1.147 False ENSG00000104856 ENSG00000104856 HGNC:9956 RFWD3 gene RFWD3 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal ?Fanconi anemia, complementation group W, 617784 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000168411 ENSG00000168411 HGNC:25539 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal HLA class II deficiency;Combined immunodeficiency;Bare lymphocyte syndrome (MHC class II deficiency);Bare lymphocyte syndrome, type II, complementation group E;Immunodeficiencies affecting cellular and humoral immunity;Respiratory and gastrointestinal infections, liver/biliary tract disease;Bare lymphocyte syndrome, type II, complementation group C 9401005;7744245 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 22863278;11313409;12618906;20414676;9806546 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal HLA class II deficiency;Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome);Bare lymphocyte syndrome, type II, complementation group D;Immunodeficiencies affecting cellular and humoral immunity;Respiratory and gastrointestinal infections, liver/biliary tract disease 12498778;9287230;18336911;22390233;20197681;9118943;9806639 False 3 100;0;0 1.147 False ENSG00000133111 ENSG00000133111 HGNC:9988 RHOH gene RHOH ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal T cell deficiency and various infectious diseases;Combined immunodeficiency;HPV infection, lung granulomas, molluscum contagiosum, lymphoma;Epidermodysplasia verruciformis;Immunodeficiencies affecting cellular and humoral immunity;RhoH deficiency 22850876;32086639;32048120;24189071 False 3 0;100;0 1.147 False ENSG00000168421 ENSG00000168421 HGNC:686 RIPK1 gene RIPK1 Expert Review Green;Literature;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe immunodeficiency, arthritis, and intestinal inflammation;Immunodeficiency 57, 618108 30026316;30026316;30591564;31213653;31827280;30026316 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal 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;Cartilage hair hypoplasia;Cartilage-hair hypoplasia;Anauxetic dysplasia 1, 232220;Omenn syndrome;Cartilage-hair hypoplasia, with or without immunodeficiency;Combined immunodeficiencies with associated or syndromic features 26830278;2328993;3582365;24217815;26279652;25663137 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Autoinflammatory Disorders;Classical AGS;Aicardi-Goutieres syndrome 4 610333, Lupus;Type 1 interferonopathies 23592335;16845400;21454563 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2 610181;Autoinflammatory Disorders;Type 1 interferonopathies;Classical AGS, SP False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3 610329;Autoinflammatory Disorders;Type 1 interferonopathies;Classical AGS 23322642;16845400;25604658;17846997 False 3 100;0;0 1.147 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASEL gene RNASEL Expert list;Expert Review Green;OMIM COVID-19 research Viral research Unknown False 3 100;0;0 1.147 False ENSG00000135828 ENSG00000135828 HGNC:10050 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;RNF168 deficiency;Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity;RIDDLE syndrome 611943 21394101;19203578;29255463 False 3 100;0;0 1.147 False ENSG00000163961 ENSG00000163961 HGNC:26661 RNF31 gene RNF31 Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy, early-onset, with or without immunodeficiency;Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis;autoinflammation and combined immunodeficiency;Combined immunodeficiencies with associated or syndromic features;Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia 32086639;32048120;26008899 False 3 0;33;67 1.147 False ENSG00000092098 ENSG00000092098 HGNC:16031 RNU4ATAC gene RNU4ATAC Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Roifman syndrome, OMIM:616651;Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000264229 ENSG00000264229 HGNC:34016 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 42 616622;Susceptibility to mycobacteria and candida;Defects in Intrinsic and Innate Immunity;Susceptibility to candidasis & Mycobacterial infection 26160376 False 3 100;0;0 1.147 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 COVID-19 research Viral research 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 1.147 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 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;Dyskeratosis congenita, 5 615190 23959892;23453664;23591994 False 3 100;0;0 1.147 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen;MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy);ataxia-thrombocytopenia syndrome;Bone marrow failure;Combined immunodeficiencies with associated or syndromic features 29175836;32086639;29266745;29535429;28487541;32048120 False 3 0;100;0 1.147 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 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction;MDS, neurological features;Combined immunodeficiencies with associated or syndromic features;Bone marrow failure 32086639;32048120;28202457 False 3 0;100;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Classical AGS, FCL;Autoinflammatory Disorders;Type 1 interferonopathies;Aicardi-Goutieres syndrome 5 612952 19525956;20358604;21102625 False 3 100;0;0 1.147 False ENSG00000101347 ENSG00000101347 HGNC:15925 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Shwachman-Bodian-Diamond syndrome;Shwachman-Diamond-syndrome;Shwachman-Diamond syndrome, 260400;Congenital defects of phagocyte number or function;Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia 14749921;12496757;11342425 False 3 100;0;0 1.147 False ENSG00000126524 ENSG00000126524 HGNC:19440 SEC61A1 gene SEC61A1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe recurrent respiratory tract infections;SEC61A1 deficiency;Hyperuricemic nephropathy, familial juvenile, 4, 617056;Predominantly Antibody Deficiencies 28782633;32086639;32048120 False 3 50;50;0 1.147 False ENSG00000058262 ENSG00000058262 HGNC:18276 SEMA3E gene SEMA3E ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome;immune-mediated cerebellar ataxia;Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs;Charge syndrome 214800;Combined immunodeficiencies with associated or syndromic features 21055784;32086639;1735828;12144540;32048120 False 3 0;33;67 1.147 False ENSG00000170381 ENSG00000170381 HGNC:10727 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 COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, types I and II 106100;Complement component 4, partial deficiency of 120790;Complement Deficiencies;Hereditary Angioedema (C1inh);Hereditary angioedema 1597123;7883978 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal drenal insufficiency;focal segmental glomerulosclerosis;steroid-resistant nephrotic syndrome;Nephrotic syndrome 14, 617575;lymphopenia 28181337;28165343;28165339 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells;Lymphoproliferative syndrome, X-linked, 1 308240;Diseases of Immune Dysregulation;X-linked lymphoproliferative syndrome (XLP);Lymphoproliferative syndrome, X-linked, 1 (XLP1) 10598819;29670631;10556288;11049992;9774102;10694488;9771704 False 3 100;0;0 1.147 False ENSG00000183918 ENSG00000183918 HGNC:10820 SH3KBP1 gene SH3KBP1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe bacterial infections;SH3KBP1 (CIN85) deficiency;Predominantly Antibody Deficiencies;Immunodeficiency 61, 300310 32086639;32048120;29636373 False 3 50;50;0 1.147 False ENSG00000147010 ENSG00000147010 HGNC:13867 SKIV2L gene SKIV2L ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2,614602;Immune dysfunction;Trichohepatoenteric syndrome 28944135;29145277;29484573 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782;Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome;Autoinflammatory Disorders 22875837;16650224;16155931;20140240;18947330;17461801;19336477;16118898;21178579;19175903;9545394;21888995;22238637;23530176;22653152;18940313;20619369 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay;Congenital defects of phagocyte number or function;Leukocyte adhesion deficiency (LAD);Congenital disorder of glycosylation, type IIc 266265 11326279;24403049;11213799;12116250;11326280;1279426 False 3 100;0;0 1.147 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 COVID-19 research Viral research 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 9428641;10482962;12576310 False 3 100;0;0 1.147 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A7 gene SLC39A7 Expert Review Green;IUIS Classification December 2019;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal B cell deficiency;Agammaglobulinemia;Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia;Predominantly Antibody Deficiencies 32086639;32048120;30718914 False 3 67;33;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050;Congenital defect of folate absorption;Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability;Defects of Vitamin B12 and Folate metabolism;Combined immunodeficiencies with associated or syndromic features 17446347;17129779;27664775 False 3 100;0;0 1.147 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC7A7 gene SLC7A7 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, 222700;Severe bacterial infections;Lysinuric protein intolerance SLC7A7 deficiency;Predominantly Antibody Deficiencies 28057010;32086639;32048120 False 3 50;50;0 1.147 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLX4 gene SLX4 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, 613951 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCAL1 gene SMARCAL1 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Schimke disease;Combined immunodeficiencies with associated or syndromic features;Schimke immunoosseous dysplasia 242900;Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure 17089404;11799392 False 3 100;0;0 1.147 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCD2 gene SMARCD2 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Congenital defects of phagocyte number or function;Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000108604 ENSG00000108604 HGNC:11107 SNORA31 gene SNORA31 Expert Review Green;Literature COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Herpes simplex encephalitis 31806906 False 3 100;0;0 1.147 False ENSG00000199477 ENSG00000199477 HGNC:32621 SNX10 gene SNX10 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Osteopetrosis with visual impairment;Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000086300 ENSG00000086300 HGNC:14974 SP110 gene SP110 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy;Hepatic venoocclusive disease with immunodeficiency 235550;Hepatic venoocclusive disease with immunodeficiency (VODI) 16648851 False 3 100;0;0 1.147 False ENSG00000135899 ENSG00000135899 HGNC:5401 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Netherton syndrome 256500;Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive 19683336;28943498;10835624;28832989;28289593 False 3 100;0;0 1.147 False ENSG00000133710 ENSG00000133710 HGNC:15464 SPPL2A gene SPPL2A Expert Review;Expert Review Green;Literature;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects with susceptibility to mycobacterial infection (MSMD);Defects in Intrinsic and Innate Immunity;Susceptibility to mycobacteria 30264912;30127434 False 3 100;0;0 1.147 False ENSG00000138600 ENSG00000138600 HGNC:30227 SRP54 gene SRP54 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schwachman Diamond features;Congenital defects of phagocyte number or function 32086639;28972538;29914977;32048120 False 3 50;50;0 1.147 False ENSG00000100883 ENSG00000100883 HGNC:11301 SRP72 gene SRP72 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bone marrow failure syndrome 1, 614675 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000174780 ENSG00000174780 HGNC:11303 STAT1 gene STAT1 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Immunodeficiency 31A, mycobacteriosis;Combined immunodeficiency;Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796;Defects with susceptibility to mycobacterial infection (MSMD);Candidiasis, familial, 7;Severe viral infections, mycobacterial infection;Chronic mucocutaneous candidiasis (CMC);Susceptibility to mycobacteria, Salmonella;Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892;CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy;Immunodeficiency 31C, autosomal dominant 614162;Defects in Intrinsic and Innate Immunity 26513235;29702748;11452125;23541320;23709754;23534974;21727188;12590259 False 3 100;0;0 1.147 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;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal STAT2 deficiency;Predisposition to several viral infection;Severe viral infections (disseminated vaccine-strain measles);Defects in Intrinsic and Innate Immunity;Immunodeficiency 44, 616636 23391734;26122121;28087227 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE recurrent infection syndrome 147060;Hyper IgE syndrome (HIES);Diseases of Immune Dysregulation;Early-onset multi-organ autoimmune disease;Autoimmune disease, multisystem, infantile-onset, 1 615952;Combined immunodeficiencies with associated or syndromic features;Autoimmune disease, multisystem, infantile-onset 17676033;17881745;25038750;25359994 False 3 100;0;0 1.147 False Other - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 STAT5B gene STAT5B ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification December 2029;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research 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 13679528;20538865;16787985;17030597;26703237;15827093;17389811;16920911 False 3 71;0;29 1.147 False ENSG00000173757 ENSG00000173757 HGNC:11367 STIM1 gene STIM1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10, 612783;Combined immunodeficiency due to STIM1 deficiency ORPHA:317430;Combined immunodeficiency;Combined immunodeficiency due to STIM1 deficiency;Autoimmunity, EDA, non-progressive myopathy;T-B+ SCID;Combined immunodeficiencies with associated or syndromic features 20876309;19420366;24621671;26560041;22190180 False 3 67;0;33 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity;Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease;Combined immunodeficiency;T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations;Immunodeficiencies affecting cellular and humoral immunity;AR hyperimmunoglobulin E syndrome 26801501;22294732;26117625;24453252;22174160 False 3 100;0;0 1.147 False ENSG00000101109 ENSG00000101109 HGNC:11408 STN1 gene STN1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres;Bone marrow failure 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000107960 ENSG00000107960 HGNC:26200 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal HLH4;Hemophagocytic lymphohistiocytosis, familial 4, 603552;Diseases of Immune Dysregulation;Familial hemophagocytic lymphohistiocytosis syndromes (FHLH);FHL4;HPLH4;Fever, HSM, cHLH, cytopenias, 20301617;24459464;16582076;16278825;15703195 False 3 100;0;0 1.147 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification December 2030;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial 5, 613101;Diseases of Immune Dysregulation;Fever, HSM, cHLH, cytopenias, enteropathy;FHL5;Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) 19804848;19884660;20301617;20798128 False 3 100;0;0 1.147 False ENSG00000076944 ENSG00000076944 HGNC:11445 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal HLA class I deficiency;Immunodeficiencies affecting cellular and humoral immunity;Vasculitis, pyoderma gangrenosum;Bare lymphocyte syndrome, type I 604571 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Vasculitis, pyoderma gangrenosum;Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571;HLA class I deficiency;Immunodeficiencies affecting cellular and humoral immunity;Wegener-like granulomatosis 10560675;11529920;20083708;7517574 False 3 100;0;0 1.147 False ENSG00000204267 ENSG00000204267 HGNC:44 TAPBP gene TAPBP ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I 604571;Vasculitis, pyoderma gangrenosum;HLA class I deficiency;Immunodeficiencies affecting cellular and humoral immunity;Vasculitis,pyoderma gangrenosum 32086639;32048120;12149238 False 3 0;100;0 1.147 False ENSG00000231925 ENSG00000231925 HGNC:11566 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 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome;3-methylglutaconic aciduria, type II, 302060;Congenital defects of phagocyte number or function;Cardiomyopathy, myopathy, growth retardation, neutropenia;Cardioskeletal myopathy with neutropenia and abnormal mitochondria False 3 100;0;0 1.147 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBK1 gene TBK1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Herpetic encephalitis (HSE);Herpes simplex virus 1 encephalitis;{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900;Herpes simplex encephalitis, susceptibility to;Defects in Intrinsic and Innate Immunity 22851595;26513235 False 3 100;0;0 1.147 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability;DiGeorge syndrome 188400;Di George syndrome;T-B+ SCID;Severe combined immunodeficiency (SCID);Combined immunodeficiencies with associated or syndromic features 11242110;24198816;14585638;32086639;32048120 False 3 0;40;60 1.147 False ENSG00000184058 ENSG00000184058 HGNC:11592 TCF3 gene TCF3 A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;IUIS Classification December 2031;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research 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 29114388;28532655;24216514 False 3 100;0;0 1.147 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 TCIRG1 gene TCIRG1 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects in intrinsic and innate immunity;Osteopetrosis with hypocalcemia;Defects in Intrinsic and Innate Immunity 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000110719 ENSG00000110719 HGNC:11647 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Transcobalamin-2 precursor;Transcobalamin II deficiency;Agammaglobulinemia;Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability;pancytopenia;Transcobalamin II deficiency, 275350;neutropenic colitis;Defects of Vitamin B12 and Folate metabolism;megaloblastic bone;can have a presentation similar to severe combined immunodeficiency;Combined immunodeficiencies with associated or syndromic features 20352340;24305960;7849710;7980584;18956254 False 3 100;0;0 1.147 False ENSG00000185339 ENSG00000185339 HGNC:11653 TERC gene TERC ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome;Bone marrow failure;Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;Dyskeratosis congenita 1;Combined immunodeficiencies with associated or syndromic features;Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients;microcephaly, neurodevelopmental delay 16332973;32086639;12525685;32048120;11574891 False 3 0;100;0 1.147 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 16247010;18460650;15885610;17785587 False 3 0;100;0 1.147 False ENSG00000164362 ENSG00000164362 HGNC:11730 TFRC gene TFRC Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent infections, neutropenia, thrombocytopenia;Recurrent infections, thrombocytopenia;Immunodeficiencies affecting cellular and humoral immunity 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000072274 ENSG00000072274 HGNC:11763 TGFB1 gene TGFB1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213 32086639;32048120;29483653 False 3 50;50;0 1.147 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGFBR1 gene TGFBR1 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Loeys-Dietz syndrome 1, 609192;Loeys Dietz syndrome due to TGFBR1 deficiency;Combined immunodeficiencies with associated or syndromic features;Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms 32086639;32048120;29392890 False 3 50;50;0 1.147 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms;Combined immunodeficiencies with associated or syndromic features;ALPS-FAS 32086639;32048120;29392890 False 3 50;50;0 1.147 False ENSG00000163513 ENSG00000163513 HGNC:11773 THBD gene THBD ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complement Deficiencies;Thrombomodulin deficiency;Hemolytic uremic syndrome, atypical, susceptibility to, 6;Atypical hemolytic-uremic syndrome 32086639;32048120 False 3 0;50;50 1.147 False ENSG00000178726 ENSG00000178726 HGNC:11784 TICAM1 gene TICAM1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced, susceptibility to, 6 614850;Herpes simplex virus 1 encephalitis;Herpetic encephalitis (HSE);Defects in Intrinsic and Innate Immunity 22105173;26513235 False 3 100;0;0 1.147 False ENSG00000127666 ENSG00000127666 HGNC:18348 TINF2 gene TINF2 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly, neurodevelopmental delay exudative retinopathy;Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;microcephaly, neurodevelopmental delay 18252230;21199492;21477109;18979121;27033759;18669893;29742735 False 3 0;100;0 1.147 False ENSG00000092330 ENSG00000092330 HGNC:11824 TIRAP gene TIRAP ESID Registry 20171117;Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Staphylococcal disease during childhood;Defects of TLR/NFkappa-B signalling;TIRAP deficiency;Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity 32086639;32048120;28235196 False 3 0;0;100 1.147 False ENSG00000150455 ENSG00000150455 HGNC:17192 TLR3 gene TLR3 Expert Review Green;IUIS Classification February 2018;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Other;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Herpetic encephalitis (HSE);Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here);Defects in Intrinsic and Innate Immunity;Herpes simplex encephalitis, susceptibility to, 2 28368532;21911422;25339207 False 3 100;0;0 1.147 False Other - please provide details in the comments ENSG00000164342 ENSG00000164342 HGNC:11849 TLR4 gene TLR4 Expert Review Green;OMIM COVID-19 research Viral research Unknown Susceptibility to respiratory syncytial virus 11062499;17579031;17709532;32383269;32391647 False 3 0;0;0 1.147 False ENSG00000136869 ENSG00000136869 HGNC:11850 TLR7 gene TLR7 Expert list;Expert Review Green;OMIM COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females 32706371;19200759;31481269;29964062;30699960 False 3 100;0;0 1.147 False ENSG00000196664 ENSG00000196664 HGNC:15631 TMC6 gene TMC6 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Literature;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV);Epidermodysplasia verruciformis, 226400;Defects in Intrinsic and Innate Immunity;Epidermodysplasia Verruciformis 15356576;28196644;15042430;12426567;17008061;26621750 False 3 100;0;0 1.147 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Literature;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal HPV (group B1) infections and cancer of the skin (typical EV);Epidermodysplasia verruciformis, 226400;Defects in Intrinsic and Innate Immunity;Epidermodysplasia Verruciformis 15356576;28196644;12426567;26997147;28646613;26621750 False 3 100;0;0 1.147 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMEM173 gene TMEM173 ESID Registry 20171117;Expert list;Expert Review Green;GRID V2.0;IUIS Classification December 2032;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal STING-associated vasculopathy, infantile-onset, OMIM:615934;Type 1 interferonopathies;Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC;Autoinflammatory Disorders 29425920;29976662;29491158;25029335;25401470;30705050 False 3 100;0;0 1.147 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 TMPRSS2 gene TMPRSS2 Expert Review Green;Literature COVID-19 research Viral research Unknown 31488196;32142651;24227843;25904605;24600012;24522916 False 3 50;50;0 1.147 False ENSG00000184012 ENSG00000184012 HGNC:11876 TNF gene TNF Expert Review Green;OMIM COVID-19 research Viral research Unknown 10719836;12915457;11506397;26657940;31986264 False 3 50;0;50 1.147 False ENSG00000232810 ENSG00000232810 HGNC:11892 TNFAIP3 gene TNFAIP3 ESID Registry 20171117;Expert Review Green;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744;Autoimmune lymphoproliferative syndrome;Arthralgia, mucosal ulcers, ocular inflammation 27845235;29572183;26642243;28659290;29317407 False 3 100;0;0 1.147 False ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF11A gene TNFRSF11A Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Osteopetrosis;Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity 32086639;32048120 False 3 0;100;0 1.147 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF13B gene TNFRSF13B A- or hypo-gammaglobulinaemia v1.25;ESID Registry 20171117;Expert Review Green;GOSH PID v.8.0;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal IgA with IgG subclass deficiency;Immunodeficiency, common variable, 2;Immunodeficiency, common variable, 2, 240500;Variable clinical expression;Isolated IgG subclass deficiency;IGAD;Selective IgA deficiency;Common variable immunodeficiency disorders (CVID);Predominantly Antibody Deficiencies;Immunoglobulin A deficiency 2, 609529;CVID 29114388;28834165;16007086;16007087;32086639;18981294;32048120 False 3 0;20;80 1.147 False ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF13C gene TNFRSF13C ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 4;Variable clinical expression;Isolated IgG subclass deficiency;Common variable immunodeficiency disorders (CVID);Predominantly Antibody Deficiencies 32086639;32048120 False 3 0;100;0 1.147 False ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF1A gene TNFRSF1A 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 COVID-19 research Viral research 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 11175303;10199409;10902757;17360963 False 3 100;0;0 1.147 False ENSG00000067182 ENSG00000067182 HGNC:11916 TNFRSF4 gene TNFRSF4 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency;Immunodeficiencies affecting cellular and humoral immunity;Impaired immunity to HHV8, Kaposis sarcoma;Combined immunodeficiency 32086639;32048120 False 3 0;50;50 1.147 False ENSG00000186827 ENSG00000186827 HGNC:11918 TNFRSF9 gene TNFRSF9 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal EBV lymphoproliferation, B-cell lymphoma;CD137 deficiency (41BB) 30872117;32086639;31537641;31501153;32048120 False 3 50;50;0 1.147 False ENSG00000049249 ENSG00000049249 HGNC:11924 TNFSF11 gene TNFSF11 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Osteopetrosis with severe growth retardation;Defects in intrinsic and innate immunity;Defects in Intrinsic and Innate Immunity 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000120659 ENSG00000120659 HGNC:11926 TNFSF12 gene TNFSF12 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency, common variable with lack of anti-pneumococcal antibody;Common variable immunodeficiency disorders (CVID);Predominantly Antibody Deficiencies;Pneumonia, bacterial infections, warts, thrombocytopenia;Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia 23493554;32086639;32048120 False 3 0;50;50 1.147 False ENSG00000239697 ENSG00000239697 HGNC:11927 TOP2B gene TOP2B Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent infections, facial dysmorphism, limb anomalies;Hoffman syndrome/TOP2B deficiency;Predominantly Antibody Deficiencies 31409799;32086639;32048120 False 3 50;50;0 1.147 False ENSG00000077097 ENSG00000077097 HGNC:11990 TP53 gene TP53 Expert Review Green;IUIS Classification December 2019;OMIM COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bone marrow failure syndrome 5, 618165 32086639;32048120;30146126 False 3 100;0;0 1.147 False ENSG00000141510 ENSG00000141510 HGNC:11998 TPP2 gene TPP2 Expert Review Green;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal immune thrombocytopenia and autoimmune hemolytic anemia;Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome;TPP2 deficiency;Tripeptidyl-Peptidase II Deficiency;Diseases of Immune Dysregulation;Evans syndrome;Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections 25525876;25414442 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Immunodeficiencies affecting cellular and humoral immunity;Recurrent viral, bacterial, fungal infections, immune dysregulation and autoimmunity, diarrhea;Immunodeficiency 7, TCR-alpha/beta deficient, 615387;Combined immunodeficiency 3464003;21206088 False 3 100;0;0 1.147 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;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Herpetic encephalitis (HSE);Herpes simplex virus 1 encephalitis;Defects in Intrinsic and Innate Immunity;Defects in intrinsic and innate immunity;{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849;Herpes simplex encephalitis, susceptibility to, 3 24378539;20832341;32086639;32048120;11296228 False 3 0;33;67 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Defects in Intrinsic and Innate Immunity;Chronic mucocutaneous candidiasis (CMC);Defects in intrinsic and innate immunity;Candidiasis, familial, 8 615527;CMC, blepharitis, folliculitis and macroglossia 32086639;24120361;32048120 False 3 0;33;67 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive;Autoinflammatory Disorders;Type 1 interferonopathies;Classical AGS, SLE, FCL 20799324;21808053;16845398;25604658 False 3 100;0;0 1.147 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM22 gene TRIM22 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal TRIM22;Granulomatous colitis;Autoinflammatory Disorders;Diseases of Immune Dysregulation 26836588;32086639;32048120 False 3 50;50;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084;congenital sideroblastic anemia, deafness, developmental delay;Predominantly Antibody Deficiencies;Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) 23553769;29055896;25193871 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa;Trichohepatoenteric syndrome 1, 222470;Intrauterine growth retardation, woolly hair;intractable diarrhoea in infancy requiring total parenteral nutrition;Hypogammaglobulinaemia;Predominantly Antibody Deficiencies;facial dysmorphism;immune dysfunction;Trichohepatoenteric syndrome 29383842;25688341;28292286;21120949;28944135;20176027 False 3 100;0;0 1.147 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150;Immunodeficiencies with multiple intestinal atresias;Combined immunodeficiency;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;Multiple intestinal atresia and severe combined immunodeficiency 24292712;23830146;23423984;24417819 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hyper IgE syndrome (HIES);Defects in Intrinsic and Innate Immunity;Immunodeficiency 35 611521;Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE 22402565;17088085;26304966 False 3 100;0;0 1.147 False ENSG00000105397 ENSG00000105397 HGNC:12440 UBE2T gene UBE2T Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T, 616435 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000077152 ENSG00000077152 HGNC:25009 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;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial 3, 608898;Diseases of Immune Dysregulation;Familial hemophagocytic lymphohistiocytosis syndromes (FHLH);HPLH3;HLH3;FHL3;Fever, HSM, HLH, cytopenias, 15632205;14622600;16278825;15703195;17993578 False 3 100;0;0 1.147 False ENSG00000092929 ENSG00000092929 HGNC:23147 UNC93B1 gene UNC93B1 ESID Registry 20171117;Expert Review Green;GRID V2.0;IUIS Classification February 2018;Literature;London North GLH;Melbourne Genomics Health Alliance Immunology Flagship;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Herpetic encephalitis (HSE);Herpes simplex virus 1 encephalitis;Herpes simplex encephalitis, susceptibility to, 1;{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551;Herpes simplex encephalitis;Defects in Intrinsic and Innate Immunity 16973841;16415873;29768176;26621750 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hyper IgM syndrome with lymphoid hyperplasia;Immunodeficiency with hyper IgM, type 5, 608106;Enlarged lymph nodes and germinal centers;Predominantly Antibody Deficiencies;CSR defects and Hyper IgM (HIGM) syndromes;Immunodeficiency with hyper IgM, type 5 12958596 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia, 604173;Clericuzio-type poikiloderma with neutropenia syndrome;Congenital defects of phagocyte number or function;Retinopathy, developmental delay, facial dysmorphisms, poikiloderma 20503306;20004881 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397;Autoinflammatory Disorders;TORCH like syndrome 32086639;32048120;31272490;27325888 False 3 50;50;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550;Congenital defects of phagocyte number or function;Dysmorphism, mental retardation, obesity, deafness, neutropenia;Cohen syndrome 24311531;15211651;12730828;20461111;15154116 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal VPS45 deficiency (SCN5);Neutropenia, severe congenital 5;Congenital defects of phagocyte number or function;Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly;Neutropenia, severe congenital, 5, autosomal recessive, 615285 23599270;23738510 False 3 100;0;0 1.147 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 COVID-19 research Viral research X-LINKED: hemizygous mutation in males, biallelic mutations in females Wiskott-Aldrich syndrome (WAS);Combined immunodeficiencies with associated or syndromic features;Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies;Congenital neutropenia;X-linked thrombocytopenia;Congenital defects of phagocyte number or function;X-linked thrombocytopenia with mutations in WASP;Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis;Neutropenia, severe congenital, X-linked, 300299;XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp;Wiskott-Aldrich syndrome 11242115;16804117 False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate;Congenital defects of phagocyte number or function 32086639;32048120;27557945 False 3 0;100;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal WIP deficiency;?Wiskott-Aldrich syndrome 2 614493;Wiskott-Aldrich syndrome like, WIP deficiency;Combined immunodeficiencies with associated or syndromic features;Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent 11869681;22231303;9405671;14757742;27742395 False 3 100;0;0 1.147 False ENSG00000115935 ENSG00000115935 HGNC:12736 WRAP53 gene WRAP53 Expert Review Green;IUIS Classification December 2019;IUIS Classification February 2018 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Bone marrow failure;Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;Combined immunodeficiencies with associated or syndromic features;Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients;microcephaly, neurodevelopmental delay 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000141499 ENSG00000141499 HGNC:25522 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;Victorian Clinical Genetics Services COVID-19 research Viral research 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 (XLP2);inflammatory bowel disease;300635;splenomegaly;Diseases of Immune Dysregulation;X-linked lymphoproliferative syndrome (XLP);haemophagocytic lymphohistiocytosis;Lymphoproliferative syndrome, X-linked, 2;EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia 25943627;21119115;17080092;21173700;22228567 False 3 100;0;0 1.147 False ENSG00000101966 ENSG00000101966 HGNC:592 XRCC2 gene XRCC2 Expert Review Green;IUIS Classification December 2019 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal ?Fanconi anemia, complementation group U, 617247 32086639;32048120 False 3 100;0;0 1.147 False ENSG00000196584 ENSG00000196584 HGNC:12829 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;SCID v1.6;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Selective T-cell defect;Combined immunodeficiency;Autoimmune disease, multisystem, infantile-onset, 2;Immunodeficiency 48;Severe Combined Immune Deficiency;Diseases of Immune Dysregulation;Immunodeficiencies affecting cellular and humoral immunity;Severe autoimmunity;Zap-70 deficiency;May have immune dysregulation, autoimmunity;Severe combined immunodeficiency (SCID) False 3 100;0;0 1.147 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 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;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 21906047;21596365 False 3 100;0;0 1.147 False ENSG00000112365 ENSG00000112365 HGNC:21143 ZNF341 gene ZNF341 Expert Review Green;IUIS Classification December 2019;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hyper-IgE syndrome;Combined immunodeficiencies with associated or syndromic features;Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth 32086639;29907691;32048120;29907690 False 3 67;33;0 1.147 False ENSG00000131061 ENSG00000131061 HGNC:15992 APOE gene APOE Expert Review Amber;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal dementia 32451547 False 2 0;0;0 1.147 False ENSG00000130203 ENSG00000130203 HGNC:613 ATF3 gene ATF3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000162772 ENSG00000162772 HGNC:785 ATG16L1 gene ATG16L1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 30666959;29367244;32265919;30510929 False 2 0;100;0 1.147 False ENSG00000085978 ENSG00000085978 HGNC:21498 ATG5 gene ATG5 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000057663 ENSG00000057663 HGNC:589 BECN1 gene BECN1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000126581 ENSG00000126581 HGNC:1034 CCR7 gene CCR7 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000126353 ENSG00000126353 HGNC:1608 CD207 gene CD207 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000116031 ENSG00000116031 HGNC:17935 CD28 gene CD28 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000178562 ENSG00000178562 HGNC:1653 CD4 gene CD4 ESID Registry 20171117;Expert Review Amber COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Selective CD4 cell deficiency;OKT4 epitope deficiency, 613949;Absence of CD4+ T cells;exuberant, relapsing, treatment-refractory warts 25611551;31781092 False 2 0;50;50 1.147 False ENSG00000010610 ENSG00000010610 HGNC:1678 CLEC4M gene CLEC4M Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown SARS infection, protection against, 605872 16991095;16369534;12738250;16364081;17321900;18697825;17534354;17534355;15496474 False 2 0;0;100 1.147 False ENSG00000104938 ENSG00000104938 HGNC:13523 CPT2 gene CPT2 Expert Review Amber;OMIM COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212 15811315;18306170;20934285;21697855 False 2 0;100;0 1.147 False ENSG00000157184 ENSG00000157184 HGNC:2330 CX3CR1 gene CX3CR1 Expert Review Amber;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal {Rapid progression to AIDS from HIV1 infection} 609423 14607932;9726990;14607932;10731151;28228284 False 2 0;100;0 1.147 False ENSG00000168329 ENSG00000168329 HGNC:2558 CXADR gene CXADR Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000154639 ENSG00000154639 HGNC:2559 CXCR3 gene CXCR3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 27412416;19039768;30109979;26318079;30467622 False 2 0;100;0 1.147 False ENSG00000186810 ENSG00000186810 HGNC:4540 DDX58 gene DDX58 Expert Review Amber;Literature COVID-19 research Viral research Unknown 21939710;16625202;15737993;25749629 False 2 0;0;0 1.147 False ENSG00000107201 ENSG00000107201 HGNC:19102 DEFA1 gene DEFA1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 32457744 False 2 0;100;0 1.147 False ENSG00000206047 ENSG00000206047 HGNC:2761 DPP4 gene DPP4 Expert Review Amber;Literature COVID-19 research Viral research Unknown Susceptiblity to MERS-CoV infection 32336077;32394639;23486063;24554656;24599590;25589660;26124093;https://doi.org/10.1101/2020.04.30.071274;31883094;31964246 False 2 0;100;0 1.147 False ENSG00000197635 ENSG00000197635 HGNC:3009 DSG2 gene DSG2 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 21151137;30862836 False 2 0;0;0 1.147 False ENSG00000046604 ENSG00000046604 HGNC:3049 EIF3M gene EIF3M Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 20676407;15919898 False 2 0;0;0 1.147 False ENSG00000149100 ENSG00000149100 HGNC:24460 FCMR gene FCMR Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 32073687;29461978;28747342;23359703 False 2 0;0;0 1.147 False ENSG00000162894 ENSG00000162894 HGNC:14315 FEZ1 gene FEZ1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 30815230;15843383;15879557;19667186;25818806;28930676;25495476 False 2 0;0;0 1.147 False ENSG00000149557 ENSG00000149557 HGNC:3659 FOLR1 gene FOLR1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000110195 ENSG00000110195 HGNC:3791 FURIN gene FURIN Expert Review Amber;Literature COVID-19 research Viral research Unknown 25974265;32362314 False 2 0;0;0 1.147 False ENSG00000140564 ENSG00000140564 HGNC:8568 FUT2 gene FUT2 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal {Norwalk virus infection, resistance to} 12692541;30845670 False 2 100;0;0 1.147 False ENSG00000176920 ENSG00000176920 HGNC:4013 GC gene GC Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;0;100 1.147 False ENSG00000145321 ENSG00000145321 HGNC:4187 GNAQ gene GNAQ Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000156052 ENSG00000156052 HGNC:4390 GPATCH3 gene GPATCH3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000198746 ENSG00000198746 HGNC:25720 GPR183 gene GPR183 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000169508 ENSG00000169508 HGNC:3128 GUCY2C gene GUCY2C Expert Review Amber;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal meconium ileus, 614665;Diarrhea 6, 614616 False 2 0;60;40 1.147 False ENSG00000070019 ENSG00000070019 HGNC:4688 IDE gene IDE Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000119912 ENSG00000119912 HGNC:5381 IFNL3 gene IFNL3 Expert Review Amber;Literature COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000197110 ENSG00000197110 HGNC:18365 IL18 gene IL18 ESID Registry 20171117;Expert Review Amber COVID-19 research Viral research Unknown Defects with susceptibility to mycobacterial infection (MSMD) 15606801;25395539;31660404 False 2 0;100;0 1.147 False ENSG00000150782 ENSG00000150782 HGNC:5986 IL3 gene IL3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000164399 ENSG00000164399 HGNC:6011 IL7 gene IL7 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 31900472;25981006 False 2 0;100;0 1.147 False ENSG00000104432 ENSG00000104432 HGNC:6023 IL9 gene IL9 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000145839 ENSG00000145839 HGNC:6029 ILF3 gene ILF3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000129351 ENSG00000129351 HGNC:6038 ITGAM gene ITGAM Expert Review Amber;GRID V2.0;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Systemic lupus erythematous 29712964;32257537 False 2 0;100;0 1.147 False ENSG00000169896 ENSG00000169896 HGNC:6149 ITPKB gene ITPKB Expert list;Expert Review Amber COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, absent T cells, present B cells and NK cells 31987846;14517551 False 2 0;100;0 1.147 False ENSG00000143772 ENSG00000143772 HGNC:6179 IVNS1ABP gene IVNS1ABP Expert Review Amber;Literature COVID-19 research Viral research Unknown False 2 0;50;50 1.147 False ENSG00000116679 ENSG00000116679 HGNC:16951 KHDRBS1 gene KHDRBS1 Expert Review Amber;Other COVID-19 research Viral research Unknown 12529443;26695943;26202240;27057671;15701759;31068419 False 2 0;0;0 1.147 False ENSG00000121774 ENSG00000121774 HGNC:18116 KRAS gene KRAS ESID Registry 20171117;Expert Review Amber;GRID V2.0 COVID-19 research Viral research Unknown RALD;RAS-associated autoimmune leukoproliferative disorder, 614470 21079152;21063026 False 2 0;100;0 1.147 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 LILRB1 gene LILRB1 Expert Review Amber;Other COVID-19 research Viral research Unknown HCMV susceptibility 30461037;32321755;29528338 False 2 0;0;0 1.147 False ENSG00000104972 ENSG00000104972 HGNC:6605 MICA gene MICA Expert Review Amber;Literature COVID-19 research Viral research Unknown primary immunodeficiency https://doi.org/10.1101/499988;28925058;31033131;15029237;27130430;21762746 False 2 0;0;100 1.147 False ENSG00000204520 ENSG00000204520 HGNC:7090 MIF gene MIF Expert Review Amber;Other COVID-19 research Viral research Unknown {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 17909632 False 2 0;0;0 1.147 False ENSG00000240972 ENSG00000240972 HGNC:7097 MIR155 gene MIR155 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False - ENSG00000283904 HGNC:31542 MRC1 gene MRC1 Expert Review Amber;Other COVID-19 research Viral research Unknown 12645947;24016730;24969847;23653008;22393309;22392581 False 2 0;0;0 1.147 False ENSG00000120586 ENSG00000260314 HGNC:7228 MRE11 gene MRE11 ESID Registry 20171117;Expert Review Amber;GRID V2.0 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal AT-like disorder;Ataxia-telangiectasia-like disorder 1 604391 8445618;10612394;15574463;32212377;29709199 False 2 0;25;75 1.147 False ENSG00000020922 ENSG00000020922 HGNC:7230 MX2 gene MX2 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 15184662;24048477;25571928;8798556;32345362;30333168 False 2 0;100;0 1.147 False ENSG00000183486 ENSG00000183486 HGNC:7533 NECTIN1 gene NECTIN1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000110400 ENSG00000110400 HGNC:9706 NLRP6 gene NLRP6 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000174885 ENSG00000174885 HGNC:22944 NPC1 gene NPC1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000141458 ENSG00000141458 HGNC:7897 NRAS gene NRAS ESID Registry 20171117;Expert Review Amber;GOSH PID v.8.0;GRID V2.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research Other Ras associated lymphoproliferative disease (RALD);Autoimmune lymphoproliferative syndrome type IV;RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470 21079152;5896945;17517660;29141318 False 2 40;60;0 1.147 False ENSG00000213281 ENSG00000213281 HGNC:7989 PDGFRA gene PDGFRA Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000134853 ENSG00000134853 HGNC:8803 PSMA3 gene PSMA3 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research Unknown CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) 26524591 False 2 25;50;25 1.147 False ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB10 gene PSMB10 Expert Review Amber;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome (PRAAS) 31783057 False 2 50;50;0 1.147 False ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB4 gene PSMB4 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) 26524591 False 2 20;80;0 1.147 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB9 gene PSMB9 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome);Autoinflammation, lipodystrophy, and dermatosis syndrome 26524591;33727065;34819510 False 2 25;75;0 1.147 False ENSG00000240065 ENSG00000240065 HGNC:9546 PTX3 gene PTX3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000163661 ENSG00000163661 HGNC:9692 PVR gene PVR Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000073008 ENSG00000073008 HGNC:9705 RC3H1 gene RC3H1 Expert Review Amber;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis 31636267;15917799 False 2 0;100;0 1.147 False ENSG00000135870 ENSG00000135870 HGNC:29434 SCARB1 gene SCARB1 Expert Review Amber;Literature COVID-19 research Viral research Unknown False 2 0;0;0 1.147 False ENSG00000073060 ENSG00000073060 HGNC:1664 SERINC3 gene SERINC3 Expert Review Amber;Literature COVID-19 research Viral research Unknown 26416733;26416734 False 2 0;100;0 1.147 False ENSG00000132824 ENSG00000132824 HGNC:11699 SERINC5 gene SERINC5 Expert Review Amber;Literature COVID-19 research Viral research Unknown 26416734;31918727 False 2 0;100;0 1.147 False ENSG00000164300 ENSG00000164300 HGNC:18825 SLC2A1 gene SLC2A1 Expert list;Expert Review Amber COVID-19 research Viral research Unknown 15767416;22308487 False 2 0;100;0 1.147 False ENSG00000117394 ENSG00000117394 HGNC:11005 TBX21 gene TBX21 Expert list;Expert Review Amber COVID-19 research Viral research Unknown {Asthma, aspirin-induced, susceptibility to}, 208550;susceptibility to chronic HBV and HCV infection 15806396;17378728;19473434;29399747 False 2 0;100;0 1.147 False ENSG00000073861 ENSG00000073861 HGNC:11599 TNFSF10 gene TNFSF10 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 18802095;14702109;31725732;27740879;17913827;15110181;29521598 False 2 0;0;0 1.147 False ENSG00000121858 ENSG00000121858 HGNC:11925 ISCA-37446-Loss region ClinGen;Expert Review Green COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 188400;clefting;Velocardiofacial syndrome;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;cardiac malformations;Hearing deficits;DiGeorge syndrome;micrognathia False 3 0;0;0 1.147 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss