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 ADA2 gene ADA2 Expert Review Green;Literature Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688;common variable immunodeficiency Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 26922074;29963054;32659374;24552284;28493328;28493328 False 3 100;0;0 1.12 True ENSG00000093072 ENSG00000093072 HGNC:1839 ATP6AP1 gene ATP6AP1 Expert list;Expert Review Green Common Variable Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, MIM#300972 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 27231034 False 3 100;0;0 1.12 True ENSG00000071553 ENSG00000071553 HGNC:868 CD19 gene CD19 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 3, MIM#613493 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 16672701;17882224;17882224;21330302;21159371 False 3 100;0;0 1.12 True ENSG00000177455 ENSG00000177455 HGNC:1633 CD27 gene CD27 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2;CD27-deficiency MIM# 615122;hepatosplenomegaly;reduced CD8+ T-cell function;lymphadenopathy;hepatosplenomegaly;fever;increased susceptibility to EBV infection;aplastic anaemia Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 22197273;22801960;22365582;25843314;11062504 False 3 100;0;0 1.12 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD81 gene CD81 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, MIM# 613496 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 20237408;35849269 False 3 100;0;0 1.12 True ENSG00000110651 ENSG00000110651 HGNC:1701 CR2 gene CR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 7, MIM# 614699 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 22035880;26325596;28499783 False 3 50;50;0 1.12 True ENSG00000117322 ENSG00000117322 HGNC:2336 CTLA4 gene CTLA4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 25213377;25329329;30377434 False 3 100;0;0 1.12 True ENSG00000163599 ENSG00000163599 HGNC:2505 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome, MIM# 193670 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 12692554 False 3 100;0;0 1.12 True ENSG00000121966 ENSG00000121966 HGNC:2561 ICOS gene ICOS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 1 MIM# 607594;recurrent bacterial respiratory/gastrointestinal infections;autoimmunity;gastroenteritis;low IgG/IgA;normal-low IgM;hypogammaglobulinaemia;low-normal B-cells;normal T-cells;Bronchitis;Lymphadenopathy;Hepatomegaly;Diarrhoea Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 12577056;15507387;19380800;28861081;31858365;11343122;16982935 False 3 100;0;0 1.12 True ENSG00000163600 ENSG00000163600 HGNC:5351 IKZF1 gene IKZF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 13 MIM# 616873;recurrent bacterial respiratory infections;Thrombocytopaenia;immunodeficiency;Hypogammaglobulinaemia;decrease B-cells;decrease B-cell differentiation;decrease memory B/T cells;Low Ig;pneumocystis early CID onset Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 21548011;26981933;29889099;31057532;7923373;11805317 False 3 100;0;0 1.12 True ENSG00000185811 ENSG00000185811 HGNC:13176 IRF2BP2 gene IRF2BP2 Expert list;Expert Review Green Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 14 MIM#617765 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 27016798;32048120;36193988;33864888 False 3 50;50;0 1.12 True ENSG00000168264 ENSG00000168264 HGNC:21729 LRBA gene LRBA Expert Review Green;Literature Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 22608502;32506362 False 3 100;0;0 1.12 True ENSG00000198589 ENSG00000198589 HGNC:1742 MAP3K14 gene MAP3K14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders Unknown Immunodeficiency 112, MIM# 620449 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 29230214;11251123;25406581 False 3 100;0;0 1.12 True ENSG00000006062 ENSG00000006062 HGNC:6853 MOGS gene MOGS Expert list;Expert Review Green Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb MIM#606056;Mannosyl-oligosaccharide glucosidase deficiency (MOGS) Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 32048120;10788335;24716661;29235540 False 3 100;0;0 1.12 True ENSG00000115275 ENSG00000115275 HGNC:24862 NFKB1 gene NFKB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency 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 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 26279205;32278790;27022143;7834752 False 3 100;0;0 1.12 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency 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 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 24140114;24888602;25524009;31417880 False 3 100;0;0 1.12 True ENSG00000077150 ENSG00000077150 HGNC:7795 PIK3CD gene PIK3CD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 14B, autosomal recessive, MIM# 619281;Immunodeficiency 14A, autosomal dominant, MIM# 615513 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 30040974;30336224;29180244;16984281;24136356;24165795;24610295 False 3 100;0;0 1.12 True Other ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert list;Expert Review Green Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 36 MIM#616005 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 32048120;27076228 False 3 100;0;0 1.12 True ENSG00000145675 ENSG00000145675 HGNC:8979 PLCG2 gene PLCG2 Expert Review Green;Literature Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Common variable immunodeficiency;Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 31853824;32671674;22236196 False 3 100;0;0 1.12 True Other ENSG00000197943 ENSG00000197943 HGNC:9066 PRKCD gene PRKCD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III, MIM# 615559;CVID 9 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 23319571;23666743;23430113;11976687;33047643;29867916 False 3 100;0;0 1.12 True ENSG00000163932 ENSG00000163932 HGNC:9399 PTEN gene PTEN Expert list;Expert Review Green Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly/autism syndrome MIM#605309;Cowden syndrome 1 MIM#158350;Skewed immune repertoire composition Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 27531073;27426521;32588888 False 3 100;0;0 1.12 True ENSG00000171862 ENSG00000171862 HGNC:9588 SEC61A1 gene SEC61A1 Expert list;Expert Review Green Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 15, MIM# 620670 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 28782633 False 3 50;50;0 1.12 True ENSG00000058262 ENSG00000058262 HGNC:18276 SOCS1 gene SOCS1 Expert Review Green;Literature Common Variable Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375;Common variable immunodeficiency Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 32499645;10490099;10490100 False 3 100;0;0 1.12 True ENSG00000185338 ENSG00000185338 HGNC:19383 TCF3 gene TCF3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Agammaglobulinaemia 8, autosomal dominant, MIM# 616941;Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 24216514;28532655;30063982;8001124;8001125 False 3 100;0;0 1.12 True ENSG00000071564 ENSG00000071564 HGNC:11633 TNFRSF13B gene TNFRSF13B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders Other Immunodeficiency, common variable, 2, MIM# 240500 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 17392798;16007086;18981294;16007087 False 3 100;0;0 1.12 True ENSG00000240505 ENSG00000240505 HGNC:18153 TRNT1 gene TRNT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 25193871;23553769;29170023;27389523 False 3 100;0;0 1.12 True ENSG00000072756 ENSG00000072756 HGNC:17341 TTC37 gene TTC37 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Common Variable Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM# 222470;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair:Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities Recurrent bacterial infections;HP:0002718; Abnormal immunoglobulin level;HP:0010701 21120949;20176027 False 3 100;0;0 1.12 True ENSG00000198677 ENSG00000198677 HGNC:23639