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 CARD9 gene CARD9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 2, autosomal recessive, MIM# 212050;Predisposition to invasive fungal disease, MONDO:0008905 Unusual infections;HP:0032101 19864672;23335372;24131138;33789983;33558980;33180249 False 3 100;0;0 1.19 True ENSG00000187796 ENSG00000187796 HGNC:16391 CIB1 gene CIB1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Epidermodysplasia verruciformis 3 618267;HPV infections and cancer of the skin" Unusual infections;HP:0032101 30068544 False 3 100;0;0 1.19 True ENSG00000185043 ENSG00000185043 HGNC:16920 CLCN7 gene CLCN7 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4 MIM#611490 Unusual infections;HP:0032101 11207362;15231021;17033731;19507210;32048120 False 3 100;0;0 1.19 True ENSG00000103249 ENSG00000103249 HGNC:2025 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome 1, MIM# 193670 Unusual infections;HP:0032101 12692554;15536153;23009155 False 3 100;0;0 1.19 True ENSG00000121966 ENSG00000121966 HGNC:2561 CYBB gene CYBB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease, X-linked, MIM# 306400 Unusual infections;HP:0032101 2556453;1710153;9585602 False 3 100;0;0 1.19 True ENSG00000165168 ENSG00000165168 HGNC:2578 DBR1 gene DBR1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334 Unusual infections;HP:0032101 39023559;29474921 False 3 100;0;0 1.19 True ENSG00000138231 ENSG00000138231 HGNC:15594 HMOX1 gene HMOX1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Heme oxygenase-1 deficiency, MIM# 614034;Asplenia" Unusual infections;HP:0032101 21088618;9884342;20844238;33066778 False 3 50;50;0 1.19 True ENSG00000100292 ENSG00000100292 HGNC:5013 IFIH1 gene IFIH1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 95 MIM#619773 Unusual infections;HP:0032101 28606988;29018476;28716935;34185153 False 3 100;0;0 1.19 True ENSG00000115267 ENSG00000115267 HGNC:18873 IFNAR1 gene IFNAR1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 106, susceptibility to viral infections MONDO:0030970 Unusual infections;HP:0032101 35442418;31270247 False 3 67;33;0 1.19 False ENSG00000142166 ENSG00000142166 HGNC:5432 IFNAR2 gene IFNAR2 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 45 MONDO:0014727 Unusual infections;HP:0032101 35442417;26424569 False 3 50;0;50 1.19 False ENSG00000159110 ENSG00000159110 HGNC:5433 IFNGR1 gene IFNGR1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950;Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Unusual infections;HP:0032101 7815885;8960475;9389728;10811850;10192386;12244188;15589309 False 3 100;0;0 1.19 True ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis, MIM# 614889 Unusual infections;HP:0032101 15924140;18625743;31222290 False 3 100;0;0 1.19 True ENSG00000159128 ENSG00000159128 HGNC:5440 IL12B gene IL12B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 29, mycobacteriosis, MIM# 614890 Unusual infections;HP:0032101 9854038;11753820;34389021 False 3 100;0;0 1.19 True ENSG00000113302 ENSG00000113302 HGNC:5970 IL12RB1 gene IL12RB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 30, MIM# 614891 Unusual infections;HP:0032101 9603733;9603732;12591909;15736007;23864330 False 3 100;0;0 1.19 True ENSG00000096996 ENSG00000096996 HGNC:5971 IL17RA gene IL17RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 51, MIM# 613953;MONDO:0013500 Unusual infections;HP:0032101 21350122;27930337 False 3 100;0;0 1.19 True ENSG00000177663 ENSG00000177663 HGNC:5985 IL17RC gene IL17RC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 9, MIM# 616445;MONDO:0014642 Unusual infections;HP:0032101 25918342 False 3 100;0;0 1.19 True ENSG00000163702 ENSG00000163702 HGNC:18358 IL23R gene IL23R Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency disease, MONDO:0021094;Susceptibility to mycobacteria and Salmonella Unusual infections;HP:0032101 30578351;35829840 False 3 50;0;50 1.19 True ENSG00000162594 ENSG00000162594 HGNC:19100 IRAK4 gene IRAK4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 67, MIM# 607676 Unusual infections;HP:0032101 26825884;17878374;17544092;16950813 False 3 100;0;0 1.19 True ENSG00000198001 ENSG00000198001 HGNC:17967 IRF1 gene IRF1 Expert list;Expert Review Green;Literature Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668 Unusual infections;HP:0032101 36736301 False 3 100;0;0 1.19 True ENSG00000125347 ENSG00000125347 HGNC:6116 IRF4 gene IRF4 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted combined immunodeficiency MONDO:0015131 Unusual infections;HP:0032101 36662884, 36917008, 29537367, 29408330 False 3 100;0;0 1.19 False ENSG00000137265 ENSG00000137265 HGNC:6119 IRF7 gene IRF7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 39, MIM# 616345 Unusual infections;HP:0032101 25814066;15800576 False 3 100;0;0 1.19 True ENSG00000185507 ENSG00000185507 HGNC:6122 IRF8 gene IRF8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Unusual infections;HP:0032101 21524210;27893462;29128673;28162909;25122610 False 3 100;0;0 1.19 True ENSG00000140968 ENSG00000140968 HGNC:5358 ISG15 gene ISG15 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38, MIM# 616126 Unusual infections;HP:0032101 25307056;22859821;35258551;32944031 False 3 100;0;0 1.19 True ENSG00000187608 ENSG00000187608 HGNC:4053 MCTS1 gene MCTS1 Expert list;Expert Review Green;Literature Defects of intrinsic and innate immunity Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related Unusual infections;HP:0032101 37875108 False 3 100;0;0 1.19 True ENSG00000232119 ENSG00000232119 HGNC:23357 MYD88 gene MYD88 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 68, MIM# 612260 Unusual infections;HP:0032101 18669862;20538326;31301515 False 3 100;0;0 1.19 True ENSG00000172936 ENSG00000172936 HGNC:7562 NBAS gene NBAS Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800;Infantile liver failure syndrome 2 MIM#616483 Unusual infections;HP:0032101 26073778;26286438;33042920 False 3 100;0;0 1.19 True ENSG00000151779 ENSG00000151779 HGNC:15625 NCSTN gene NCSTN Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acne inversa, familial, 1 MIM#142690 Unusual infections;HP:0032101 20929727;21412258;32048120 False 3 100;0;0 1.19 True ENSG00000162736 ENSG00000162736 HGNC:17091 OAS2 gene OAS2 Expert list;Expert Review Green;Literature Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related Unusual infections;HP:0032101 36538032 False 3 100;0;0 1.19 False ENSG00000111335 ENSG00000111335 HGNC:8087 OSTM1 gene OSTM1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 MIM#259720 Unusual infections;HP:0032101 12627228;15108279;16813530;23772242;32048120 False 3 100;0;0 1.19 True ENSG00000081087 ENSG00000081087 HGNC:21652 PLEKHM1 gene PLEKHM1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 6 MIM#611497 Unusual infections;HP:0032101 17404618;32048120 False 3 100;0;0 1.19 True ENSG00000225190 ENSG00000225190 HGNC:29017 PSEN1 gene PSEN1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Acne inversa, familial, 3 MIM#613737 Unusual infections;HP:0032101 20929727;32048120;33333507;30544224 False 3 100;0;0 1.19 True ENSG00000080815 ENSG00000080815 HGNC:9508 PSENEN gene PSENEN Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736 Unusual infections;HP:0032101 20929727;21412258;27900998;32048120 False 3 100;0;0 1.19 True ENSG00000205155 ENSG00000205155 HGNC:30100 RANBP2 gene RANBP2 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Unusual infections;HP:0032101 19118815;25128471;25522933;32048120 False 3 100;0;0 1.19 True ENSG00000153201 ENSG00000153201 HGNC:9848 RORC gene RORC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 42, MIM# 616622 Unusual infections;HP:0032101 26160376 False 3 100;0;0 1.19 True ENSG00000143365 ENSG00000143365 HGNC:10260 RPSA gene RPSA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Asplenia, isolated congenital, MIM# 271400 Unusual infections;HP:0032101 23579497 False 3 100;0;0 1.19 True ENSG00000168028 ENSG00000168028 HGNC:6502 SNORA31 gene SNORA31 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Unusual infections;HP:0032101 31806906 False 3 100;0;0 1.19 False ENSG00000199477 ENSG00000199477 HGNC:32621 SNX10 gene SNX10 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 MIM#615085 Unusual infections;HP:0032101 22499339;23123320;30885997;32048120;32278070 False 3 100;0;0 1.19 True ENSG00000086300 ENSG00000086300 HGNC:14974 STAT1 gene STAT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders Unknown Unusual infections;HP:0032101 False 3 100;0;0 1.19 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders Unknown Unusual infections;HP:0032101 False 3 100;0;0 1.19 False ENSG00000170581 ENSG00000170581 HGNC:11363 TBK1 gene TBK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders Unknown Unusual infections;HP:0032101 False 3 100;0;0 1.19 False ENSG00000183735 ENSG00000183735 HGNC:11584 TCIRG1 gene TCIRG1 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 MIM#259700 Unusual infections;HP:0032101 10888887;31938717;19507210;32048120 False 3 100;0;0 1.19 True ENSG00000110719 ENSG00000110719 HGNC:11647 TICAM1 gene TICAM1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders Unknown Unusual infections;HP:0032101 False 3 100;0;0 1.19 False ENSG00000127666 ENSG00000127666 HGNC:18348 TLR3 gene TLR3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders Unknown Unusual infections;HP:0032101 False 3 100;0;0 1.19 False ENSG00000164342 ENSG00000164342 HGNC:11849 TLR7 gene TLR7 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767 Unusual infections;HP:0032101 32706371;35708626 False 3 100;0;0 1.19 True ENSG00000196664 ENSG00000196664 HGNC:15631 TLR8 gene TLR8 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Unusual infections;HP:0032101 33512449;34981838 False 3 100;0;0 1.19 True Other ENSG00000101916 ENSG00000101916 HGNC:15632 TMC6 gene TMC6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders Unknown Unusual infections;HP:0032101 False 3 100;0;0 1.19 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformis 2, MIM# 618231 Unusual infections;HP:0032101 34459021;28646613;12426567 False 3 100;0;0 1.19 True ENSG00000167895 ENSG00000167895 HGNC:20474 TNFRSF11A gene TNFRSF11A Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7 MIM#612301 Unusual infections;HP:0032101 18606301;32048120 False 3 100;0;0 1.19 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNFSF11 gene TNFSF11 Expert list;Expert Review Green Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 MIM#259710 Unusual infections;HP:0032101 17632511;32048120;10984520 False 3 100;0;0 1.19 True ENSG00000120659 ENSG00000120659 HGNC:11926 TYK2 gene TYK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 35, MIM# 611521 Unusual infections;HP:0032101 17088085;17521577;26304966 False 3 100;0;0 1.19 True ENSG00000105397 ENSG00000105397 HGNC:12440 ZNFX1 gene ZNFX1 Expert list;Expert Review Green;Literature Defects of intrinsic and innate immunity Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 91 and hyperinflammation MONDO:0030491 Unusual infections;HP:0032101 33872655 False 3 100;0;0 1.19 False ENSG00000124201 ENSG00000124201 HGNC:29271