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 AICDA gene AICDA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2, MIM# 605258 Decreased immunoglobulin level;HP:0041078 11007475 False 3 100;0;0 1.0 True ENSG00000111732 ENSG00000111732 HGNC:13203 ATP6AP1 gene ATP6AP1 Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, MIM# 300972;Hepatopathy;Leukopenia;Low copper Decreased immunoglobulin level;HP:0041078 27231034 False 3 100;0;0 1.0 True ENSG00000071553 ENSG00000071553 HGNC:868 BLNK gene BLNK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 4, MIM# 613502 Decreased immunoglobulin level;HP:0041078 10583958;32194234;25893637 False 3 100;0;0 1.0 True ENSG00000095585 ENSG00000095585 HGNC:14211 BTK gene BTK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinaemia, X-linked 1, MIM# 300755;Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Decreased immunoglobulin level;HP:0041078 8013627;7849697 False 3 100;0;0 1.0 True ENSG00000010671 ENSG00000010671 HGNC:1133 CARD11 gene CARD11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000198286 ENSG00000198286 HGNC:16393 CD19 gene CD19 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 3, MIM# 613493 Decreased immunoglobulin level;HP:0041078 16672701;17882224;17882224;21330302;21159371 False 3 100;0;0 1.0 True ENSG00000177455 ENSG00000177455 HGNC:1633 CD79A gene CD79A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 3, MIM#613501 Decreased immunoglobulin level;HP:0041078 29335801;31696364;24481606;10525050;11920841 False 3 100;0;0 1.0 True ENSG00000105369 ENSG00000105369 HGNC:1698 CD79B gene CD79B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 6, MIM# 612692 Decreased immunoglobulin level;HP:0041078 17709424;17675462;33733381;24722855 False 3 100;0;0 1.0 True ENSG00000007312 ENSG00000007312 HGNC:1699 CD81 gene CD81 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, MIM# 613496 Decreased immunoglobulin level;HP:0041078 20237408;35849269 False 3 100;0;0 1.0 True ENSG00000110651 ENSG00000110651 HGNC:1701 CR2 gene CR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 7, MIM# 614699 Decreased immunoglobulin level;HP:0041078 22035880;26325596;28499783 False 3 100;0;0 1.0 True ENSG00000117322 ENSG00000117322 HGNC:2336 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000121966 ENSG00000121966 HGNC:2561 DNMT3B gene DNMT3B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000088305 ENSG00000088305 HGNC:2979 FNIP1 gene FNIP1 Expert Review Green;Literature Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic Cardiomyopathy;Primary Immunodeficiency;Agammaglobulinemia;Neutropenia;Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Decreased immunoglobulin level;HP:0041078 PMID: 37522988;PMID: 32181500;PMID: 32905580 (2020) False 3 100;0;0 1.0 True ENSG00000217128 ENSG00000217128 HGNC:29418 IGHM gene IGHM Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Agammaglobulinemia 1, MIM# 601495" Decreased immunoglobulin level;HP:0041078 12370281;8890099 False 3 100;0;0 1.0 True ENSG00000211899 ENSG00000211899 HGNC:5541 IGLL1 gene IGLL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 2, MIM# 613500 Decreased immunoglobulin level;HP:0041078 9419212;25502423;27576013 False 3 100;0;0 1.0 True ENSG00000128322 ENSG00000128322 HGNC:5870 IKZF1 gene IKZF1 Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency, common variable, 13, MIM# 616873;Low IgG, IgA, IgM, low or normal B cells;B cells and Ig levels reduce with age;Decreased pro-B cells;Recurrent sinopulmonary infections;Increased risk of ALL, autoimmunity" Decreased immunoglobulin level;HP:0041078 21548011;26981933 False 3 100;0;0 1.0 True ENSG00000185811 ENSG00000185811 HGNC:13176 IRF2BP2 gene IRF2BP2 Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency, common variable, 14, MIM# 617765" Decreased immunoglobulin level;HP:0041078 27016798;32048120;36193988;33864888 False 3 67;33;0 1.0 True ENSG00000168264 ENSG00000168264 HGNC:21729 KARS gene KARS Expert list;Expert Review Green;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893 Decreased immunoglobulin level;HP:0041078 37770806 False 3 100;0;0 1.0 True ENSG00000065427 ENSG00000065427 HGNC:6215 MOGS gene MOGS Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 Decreased immunoglobulin level;HP:0041078 31925597;30587846;33058492 False 3 100;0;0 1.0 True ENSG00000115275 ENSG00000115275 HGNC:24862 NFKB1 gene NFKB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 12 MIM# 616576;Normal-low IgG, IgA, IgM;low-normal B cells;low switched memory B cells;hypogammaglobulinaemia;recurrent respiratory and gastrointestinal infections;Chronic obstructive pulmonary disease COPD;EBV proliferation;autoimmunity;alopecia Decreased immunoglobulin level;HP:0041078 26279205;32278790;27022143;7834752 False 3 100;0;0 1.0 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 10 MIM# 615577;Low serum IgG, IgA, IgM;low B cell numbers;low switched memory B cells;Recurrent sinopulmonary infections, Alopecia;endocrinopathies;ACTH deficiency Decreased immunoglobulin level;HP:0041078 24140114;24888602;25524009;31417880 False 3 100;0;0 1.0 True ENSG00000077150 ENSG00000077150 HGNC:7795 OAS1 gene OAS1 Expert Review Green;Literature Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Decreased immunoglobulin level;HP:0041078 29455859 False 3 100;0;0 1.0 True ENSG00000089127 ENSG00000089127 HGNC:8086 PIK3CD gene PIK3CD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 14, MIM# 615513 Decreased immunoglobulin level;HP:0041078 24136356;30018075;24165795 False 3 100;0;0 1.0 True Other ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000145675 ENSG00000145675 HGNC:8979 PTEN gene PTEN Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PTEN hamartoma tumor syndrome MONDO:0017623 Decreased immunoglobulin level;HP:0041078 30504085;33532886;26246517 False 3 100;0;0 1.0 True ENSG00000171862 ENSG00000171862 HGNC:9588 RAC2 gene RAC2 Expert list;Expert Review Amber;Expert Review Green Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SCID;recurrent bacterial and viral infections;lymphoproliferation;neutropaenia;reticular dysgenesis;deafness;selective IgA deficiency;Reduced Ab responses following vaccination Decreased immunoglobulin level;HP:0041078 32198141;31919089;31382036;31071452;30723080;30654050 False 3 67;33;0 1.0 True ENSG00000128340 ENSG00000128340 HGNC:9802 SEC61A1 gene SEC61A1 Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056;Immunodeficiency, common variable, 15, MIM# 620670" Decreased immunoglobulin level;HP:0041078 27392076;28782633 False 3 67;33;0 1.0 True ENSG00000058262 ENSG00000058262 HGNC:18276 SENP7 gene SENP7 Expert Review Green;Literature Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Decreased immunoglobulin level;HP:0041078 38972567 False 3 50;50;0 1.0 True ENSG00000138468 ENSG00000138468 HGNC:30402 SH2D1A gene SH2D1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000183918 ENSG00000183918 HGNC:10820 SKIV2L gene SKIV2L Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM#614602 Decreased immunoglobulin level;HP:0041078 22444670 False 3 50;50;0 1.0 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC39A7 gene SLC39A7 Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 9, autosomal recessive, MIM# 619693;Antibody deficiency;early onset infections;blistering dermatosis;failure to thrive;thrombocytopaenia Decreased immunoglobulin level;HP:0041078 30718914 False 3 100;0;0 1.0 True ENSG00000112473 ENSG00000112473 HGNC:4927 SP110 gene SP110 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPI1 gene SPI1 Expert Review Green;Literature Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agammaglobulinaemia 10, autosomal dominant, MIM# 619707 Decreased immunoglobulin level;HP:0041078 33951726 False 3 100;0;0 1.0 True ENSG00000066336 ENSG00000066336 HGNC:11241 TCF3 gene TCF3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Agammaglobulinaemia 8, autosomal dominant, MIM# 616941;Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Decreased immunoglobulin level;HP:0041078 24216514;28532655;30063982;8001124;8001125 False 3 100;0;0 1.0 True ENSG00000071564 ENSG00000071564 HGNC:11633 TNFRSF13B gene TNFRSF13B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Other Immunodeficiency, common variable, 2, MIM# 240500 Decreased immunoglobulin level;HP:0041078 17392798;16007086;18981294;16007087 False 3 100;0;0 1.0 True ENSG00000240505 ENSG00000240505 HGNC:18153 TOP2B gene TOP2B Expert list;Expert Review Green Predominantly Antibody Deficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296;Antibody deficiency;Recurrent infections;Facial dysmorphism;Limb anomalies Decreased immunoglobulin level;HP:0041078 31409799 False 3 100;0;0 1.0 True ENSG00000077097 ENSG00000077097 HGNC:11990 TRNT1 gene TRNT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000072756 ENSG00000072756 HGNC:17341 TTC37 gene TTC37 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000198677 ENSG00000198677 HGNC:23639 UNG gene UNG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000076248 ENSG00000076248 HGNC:12572 WAS gene WAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders Unknown Decreased immunoglobulin level;HP:0041078 False 3 100;0;0 1.0 False ENSG00000015285 ENSG00000015285 HGNC:12731 WIPF1 gene WIPF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2 MIM# 614493;Reduced T cells;defective lymphocyte responses to anti-CD3;high IgE;Thrombocytopenia with or without small platelets;recurrent bacterial and viral Infections;eczema;bloody diarrhoea;gastrointestinal bleeding;WAS protein absent Decreased immunoglobulin level;HP:0041078 22231303;27742395;11869681;14757742 False 3 100;0;0 1.0 True ENSG00000115935 ENSG00000115935 HGNC:12736 XIAP gene XIAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Predominantly Antibody Deficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Decreased immunoglobulin level;HP:0041078 22228567;25943627 False 3 100;0;0 1.0 True ENSG00000101966 ENSG00000101966 HGNC:592