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 CCR5 gene CCR5 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Hepatitis C virus, resistance to} 609532;{HIV infection, susceptibility/resistance to};{West nile virus, susceptibility to}MIM# 610379" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 False 3 100;0;0 0.131 True ENSG00000160791 ENSG00000160791 HGNC:1606 CD27 gene CD27 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 2, MIM# 615122;Host response to EBV" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 22801960;22197273 False 3 100;0;0 0.131 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD4 gene CD4 Expert Review Green;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 79, MIM# 619238;Absence of CD4+ T cells;exuberant, relapsing, treatment-refractory warts Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 31781092;33471124 False 3 100;0;0 0.131 True ENSG00000010610 ENSG00000010610 HGNC:1678 CD70 gene CD70 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 3, MIM# 618261;Host response to EBV" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 28011864;28011863, False 3 100;0;0 0.131 True ENSG00000125726 ENSG00000125726 HGNC:11937 CIB1 gene CIB1 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Epidermodysplasia verruciformis 3, MIM# 618267;HPV infections and cancer of the skin" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 30068544 False 3 100;0;0 0.131 True ENSG00000185043 ENSG00000185043 HGNC:16920 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders Unknown Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 False 3 100;0;0 0.131 False ENSG00000121966 ENSG00000121966 HGNC:2561 DBR1 gene DBR1 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441;Viral infections of the brainstem Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 29474921 False 3 100;0;0 0.131 True ENSG00000138231 ENSG00000138231 HGNC:15594 IFIH1 gene IFIH1 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe viral respiratory infections;Rhinovirus and other RNA viruses Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 28716935;29018476 False 3 100;0;0 0.131 True ENSG00000115267 ENSG00000115267 HGNC:18873 IFNAR1 gene IFNAR1 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 106, susceptibility to viral infections, MIM# 619935;Severe disease caused by Yellow Fever vaccine and Measles vaccine" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 31270247 False 3 50;50;0 0.131 True ENSG00000142166 ENSG00000142166 HGNC:5432 IFNAR2 gene IFNAR2 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 45, MIM# 616669" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 26424569;35442417 False 3 50;0;50 0.131 True ENSG00000159110 ENSG00000159110 HGNC:5433 IRF7 gene IRF7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 39, MIM# 616345 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 25814066;15800576;35986347;35670811 False 3 100;0;0 0.131 True ENSG00000185507 ENSG00000185507 HGNC:6122 ITK gene ITK Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 1, MIM# 613011;EBV- associated B cell lymphoproliferation, lymphoma" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 19425169;22289921;21109689 False 3 100;0;0 0.131 True ENSG00000113263 ENSG00000113263 HGNC:6171 MAGT1 gene MAGT1 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 21796205;24550228;25504528 False 3 100;0;0 0.131 True ENSG00000102158 ENSG00000102158 HGNC:28880 MSN gene MSN Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 50, MIM# 300988" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 27405666 False 3 100;0;0 0.131 True ENSG00000147065 ENSG00000147065 HGNC:7373 OAS2 gene OAS2 Expert Review Green;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 36538032 False 3 100;0;0 0.131 True ENSG00000111335 ENSG00000111335 HGNC:8087 PLCG2 gene PLCG2 Expert Review Green;Literature Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related;Susceptibility to herpes virus Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 37714437 False 3 100;0;0 0.131 True ENSG00000197943 ENSG00000197943 HGNC:9066 SH2D1A gene SH2D1A Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Host response to EBV infection;Lymphoproliferative syndrome, X-linked, 1 308240" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 9771704 False 3 100;0;0 0.131 True ENSG00000183918 ENSG00000183918 HGNC:10820 SNORA31 gene SNORA31 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 31806906 False 3 100;0;0 0.131 True ENSG00000199477 ENSG00000199477 HGNC:32621 STAT1 gene STAT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 12590259;16585605 False 3 100;0;0 0.131 True ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders Unknown Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 False 3 100;0;0 0.131 False ENSG00000170581 ENSG00000170581 HGNC:11363 TBK1 gene TBK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary predisposition to infections, MONDO:0015979, TBK1-related Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 22851595 False 3 100;0;0 0.131 True Other ENSG00000183735 ENSG00000183735 HGNC:11584 TICAM1 gene TICAM1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 22105173;26513235 False 3 100;0;0 0.131 True ENSG00000127666 ENSG00000127666 HGNC:18348 TLR3 gene TLR3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 17872438;25339207 False 3 100;0;0 0.131 True ENSG00000164342 ENSG00000164342 HGNC:11849 TLR7 gene TLR7 Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 32706371 False 3 100;0;0 0.131 True ENSG00000196664 ENSG00000196664 HGNC:15631 TMC6 gene TMC6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders Unknown Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 False 3 0;0;0 0.131 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders Unknown Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 False 3 100;0;0 0.131 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMEFF1 gene TMEFF1 Expert Review Green;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related;HSV encephalitis Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 39048830 False 3 100;0;0 0.131 True ENSG00000241697 ENSG00000241697 HGNC:11866 TNFRSF9 gene TNFRSF9 Expert Review Green;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 109 with lymphoproliferation, MIM# 620282 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 37144041 False 3 100;0;0 0.131 True ENSG00000049249 ENSG00000049249 HGNC:11924 XIAP gene XIAP Expert list;Expert Review Green Susceptibility to Viral Infections Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Lymphoproliferative syndrome, X-linked, 2 300635;Host response to EBV" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 17080092 False 3 100;0;0 0.131 True ENSG00000101966 ENSG00000101966 HGNC:592 ZNFX1 gene ZNFX1 Expert Review Green;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, MIM# 619644 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 33872655 False 3 100;0;0 0.131 True ENSG00000124201 ENSG00000124201 HGNC:29271 CD28 gene CD28 Expert Review Amber;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901;isolated susceptibility to cutaneous - and -HPVs Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 34214472 False 2 0;50;50 0.131 True ENSG00000178562 ENSG00000178562 HGNC:1653 FCGR3A gene FCGR3A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, MIM# 615707 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 8874200;23006327;8608639 False 2 0;100;0 0.131 True ENSG00000203747 ENSG00000203747 HGNC:3619 IKBKE gene IKBKE Expert Review Amber;Literature Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 37937644 False 2 0;100;0 0.131 True - - HGNC:14552 IL27RA gene IL27RA Expert Review Amber;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 38509369 False 2 0;100;0 0.131 True ENSG00000104998 ENSG00000104998 HGNC:17290 IRF3 gene IRF3 Expert list;Expert Review Amber Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 26216125;20660188;26513235 False 2 0;100;0 0.131 True ENSG00000126456 ENSG00000126456 HGNC:6118 IRF9 gene IRF9 Expert list;Expert Review Amber Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 65, susceptibility to viral infections 618648" Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 30826365;30143481 False 2 0;100;0 0.131 True ENSG00000213928 ENSG00000213928 HGNC:6131 MCM10 gene MCM10 Expert Review Amber;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313;Susceptibility to CMV Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 32865517;33712616 False 2 0;50;50 0.131 True ENSG00000065328 ENSG00000065328 HGNC:18043 NFATC2 gene NFATC2 Expert Review Amber;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 35789258;38427060 False 2 0;33;67 0.131 True ENSG00000101096 ENSG00000101096 HGNC:7776 POLR3A gene POLR3A Expert list;Expert Review Amber Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 28783042;29728610 False 2 0;100;0 0.131 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3C gene POLR3C Expert list;Expert Review Amber Susceptibility to Viral Infections Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 28783042 False 2 0;100;0 0.131 True ENSG00000186141 ENSG00000186141 HGNC:30076 RIPK3 gene RIPK3 Expert Review Amber;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related;Recurrent HSV encephalitis Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 37083451 False 2 0;100;0 0.131 True ENSG00000129465 ENSG00000129465 HGNC:10021 RNASEL gene RNASEL Expert Review Amber;Literature Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 PMID: 36538032 False 2 0;100;0 0.131 True ENSG00000135828 ENSG00000135828 HGNC:10050 UNC93B1 gene UNC93B1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Susceptibility to Viral Infections Immunological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Recurrent viral infections;HP:0004429; Severe viral infection;HP:0031691 16973841;29768176 False 2 0;100;0 0.131 True ENSG00000110057 ENSG00000110057 HGNC:13481