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 APOL1 gene APOL1 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 Abnormality of the immune system;HP:0002715 False 1 0;0;100 13.3 True ENSG00000100342 ENSG00000100342 HGNC:618 ATG4A gene ATG4A Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) infectious meningitis MONDO:0004796 Abnormality of the immune system;HP:0002715 33310865 False 1 0;0;100 13.3 True ENSG00000101844 ENSG00000101844 HGNC:16489 ATG9A gene ATG9A Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autophagy-associated immune dysregulation and hyperplasia Abnormality of the immune system;HP:0002715 35838483 False 1 0;0;100 13.3 True ENSG00000198925 ENSG00000198925 HGNC:22408 C8G gene C8G Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 1 0;0;100 13.3 True ENSG00000176919 ENSG00000176919 HGNC:1354 CARD10 gene CARD10 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 89 and autoimmunity, MIM# 619632 Abnormality of the immune system;HP:0002715 32238915 False 1 0;0;100 13.3 True ENSG00000100065 ENSG00000100065 HGNC:16422 CASP4 gene CASP4 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infection, MONDO:0015979, CASP4-related;Susceptibility to meliodiosis Abnormality of the immune system;HP:0002715 PMID: 37647624 False 1 0;0;100 13.3 True ENSG00000196954 ENSG00000196954 HGNC:1505 CFHR1 gene CFHR1 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 1 0;50;50 13.3 True ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN Abnormality of the immune system;HP:0002715 24334459;23728178;20800271 False 1 0;0;100 13.3 True ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400 Abnormality of the immune system;HP:0002715 False 1 0;50;50 13.3 True ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 1 0;0;100 13.3 True ENSG00000134365 ENSG00000134365 HGNC:16979 CFHR5 gene CFHR5 Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Nephropathy due to CFHR5 deficiency, MIM# 614809 Abnormality of the immune system;HP:0002715 False 1 50;0;50 13.3 True ENSG00000134389 ENSG00000134389 HGNC:24668 CLEC7A gene CLEC7A Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Candidiasis, familial, 4, autosomal recessive MIM#613108;{Aspergillosis, susceptibility to} , MIM#614079;Mucocutaneous candidiasis" Abnormality of the immune system;HP:0002715 PMID: 19864674 False 1 0;0;100 13.3 True ENSG00000172243 ENSG00000172243 HGNC:14558 COL7A1 gene COL7A1 Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa dystrophica, AR, MIM# 226600 Abnormality of the immune system;HP:0002715 27537055;25058236 False 1 0;0;100 13.3 True ENSG00000114270 ENSG00000114270 HGNC:2214 CRACR2A gene CRACR2A Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated;late onset combined immunodeficiency Abnormality of the immune system;HP:0002715 PMID:34908525 False 1 0;0;100 13.3 True ENSG00000130038 ENSG00000130038 HGNC:28657 DBF4 gene DBF4 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal severe congenital neutropenia MONDO:0018542 Abnormality of the immune system;HP:0002715 36841265 False 1 0;0;100 13.3 True ENSG00000006634 ENSG00000006634 HGNC:17364 DCLRE1B gene DCLRE1B Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome Abnormality of the immune system;HP:0002715 20479256;21647296 False 1 0;0;100 13.3 True ENSG00000118655 ENSG00000118655 HGNC:17641 ERN1 gene ERN1 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation Abnormality of the immune system;HP:0002715 False 1 0;0;100 13.3 True ENSG00000178607 ENSG00000178607 HGNC:3449 FAAP24 gene FAAP24 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related Abnormality of the immune system;HP:0002715 27473539 False 1 0;0;100 13.3 True ENSG00000131944 ENSG00000131944 HGNC:28467 FANCM gene FANCM Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia Abnormality of the immune system;HP:0002715 28837162 False 1 0;0;100 13.3 True ENSG00000187790 ENSG00000187790 HGNC:23168 FBXW11 gene FBXW11 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory disorder MONDO:0019751, FBXW11-related Abnormality of the immune system;HP:0002715 PMID: 36250618 False 1 0;0;100 13.3 True ENSG00000072803 ENSG00000072803 HGNC:13607 FECH gene FECH Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1, MIM# 177000 Abnormality of the immune system;HP:0002715 False 1 0;0;100 13.3 True ENSG00000066926 ENSG00000066926 HGNC:3647 FERMT1 gene FERMT1 Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Kindler syndrome, MIM# 173650 Abnormality of the immune system;HP:0002715 19057668;27537055;32463623 False 1 0;0;100 13.3 True ENSG00000101311 ENSG00000101311 HGNC:15889 FMNL2 gene FMNL2 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265, FMNL2-related Abnormality of the immune system;HP:0002715 34043722 False 1 0;0;100 13.3 True ENSG00000157827 ENSG00000157827 HGNC:18267 FPR1 gene FPR1 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Periodontitis Abnormality of the immune system;HP:0002715 29105764;28371599 False 1 0;0;100 13.3 True ENSG00000171051 ENSG00000171051 HGNC:3826 FUT2 gene FUT2 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Norwalk virus infection, resistance to Abnormality of the immune system;HP:0002715 False 1 0;0;100 13.3 True ENSG00000176920 ENSG00000176920 HGNC:4013 GINS4 gene GINS4 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency MONDO:0015131 Abnormality of the immune system;HP:0002715 36345943 False 1 0;0;100 13.3 True ENSG00000147536 ENSG00000147536 HGNC:28226 GTF3A gene GTF3A Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal herpes simplex encephalitis MONDO:0012521 Abnormality of the immune system;HP:0002715 36399538 False 1 0;0;100 13.3 True ENSG00000122034 ENSG00000122034 HGNC:4662 HS3ST6 gene HS3ST6 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-8 (HAE8), MIM#619367 Abnormality of the immune system;HP:0002715 33508266 False 1 0;0;100 13.3 True ENSG00000162040 ENSG00000162040 HGNC:14178 IL12RB2 gene IL12RB2 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Susceptibility to mycobacteria and Salmonella Abnormality of the immune system;HP:0002715 30578351 False 1 0;0;100 13.3 True ENSG00000081985 ENSG00000081985 HGNC:5972 IL17F gene IL17F Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Candidiasis, familial, 6, autosomal dominant, MIM# 613956 Abnormality of the immune system;HP:0002715 21350122 False 1 0;0;100 13.3 True ENSG00000112116 ENSG00000112116 HGNC:16404 IL17F gene IL17F Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Candidiasis, familial, 6, autosomal dominant, MIM# 613956 Abnormality of the immune system;HP:0002715 21350122 False 1 0;0;100 13.3 False ENSG00000112116 ENSG00000112116 HGNC:16404 IL18BP gene IL18BP Expert list;Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal {?Hepatitis, fulminant viral, susceptibility to} 618549 Abnormality of the immune system;HP:0002715 31213488 False 1 0;0;100 13.3 False ENSG00000137496 ENSG00000137496 HGNC:5987 IL18BP gene IL18BP Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "{?Hepatitis, fulminant viral, susceptibility to} 618549" Abnormality of the immune system;HP:0002715 31213488 False 1 0;0;100 13.3 True ENSG00000137496 ENSG00000137496 HGNC:5987 IL1R1 gene IL1R1 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Chronic recurrent multifocal osteomyelitis 3, MIM# 259680" Abnormality of the immune system;HP:0002715 37315560 False 1 0;0;100 13.3 True ENSG00000115594 ENSG00000115594 HGNC:5993 IL21 gene IL21 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Immunodeficiency, common variable, 11, MIM# 615767 Abnormality of the immune system;HP:0002715 24746753 False 1 0;0;100 13.3 True ENSG00000138684 ENSG00000138684 HGNC:6005 IL21 gene IL21 Expert Review Red;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 11, MIM# 615767 Abnormality of the immune system;HP:0002715 24746753 False 1 0;100;0 13.3 True ENSG00000138684 ENSG00000138684 HGNC:6005 IL21 gene IL21 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 11 MIM#615767 Abnormality of the immune system;HP:0002715 24746753;19738033 False 1 0;0;100 13.3 True ENSG00000138684 ENSG00000138684 HGNC:6005 IL37 gene IL37 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398" Abnormality of the immune system;HP:0002715 33674380 False 1 0;0;100 13.3 True ENSG00000125571 ENSG00000125571 HGNC:15563 IL6ST gene IL6ST Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750" Abnormality of the immune system;HP:0002715 33517393 False 1 0;0;100 13.3 True ENSG00000134352 ENSG00000134352 HGNC:6021 IRAK1 gene IRAK1 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Susceptibility to bacterial infections Abnormality of the immune system;HP:0002715 28069966 False 1 0;0;100 13.3 True ENSG00000184216 ENSG00000184216 HGNC:6112 IRAK2 gene IRAK2 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immune dysregulation, MONDO:0957790, IRAK2-related Abnormality of the immune system;HP:0002715 PMID: 39299377 False 1 0;0;100 13.3 True ENSG00000134070 ENSG00000134070 HGNC:6113 IRAK2 gene IRAK2 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immune dysregulation, MONDO:0957790, IRAK2-related Abnormality of the immune system;HP:0002715 PMID: 39299377 False 1 0;0;100 13.3 True ENSG00000134070 ENSG00000134070 HGNC:6113 ITGAM gene ITGAM Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 1 0;0;100 13.3 True ENSG00000169896 ENSG00000169896 HGNC:6149 ITPKB gene ITPKB Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, absent T cells, present B cells and NK cells Abnormality of the immune system;HP:0002715 31987846 False 1 0;0;100 13.3 True ENSG00000143772 ENSG00000143772 HGNC:6179 LSM11 gene LSM11 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome MONDO:0018866 Abnormality of the immune system;HP:0002715 33230297 False 1 0;0;100 13.3 True ENSG00000155858 ENSG00000155858 HGNC:30860 LY96 gene LY96 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, LY96-related Abnormality of the immune system;HP:0002715 36462957 False 1 0;0;100 13.3 True ENSG00000154589 ENSG00000154589 HGNC:17156 LY96 gene LY96 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, LY96-related;Colitis Abnormality of the immune system;HP:0002715 PMID: 36462957 False 1 0;0;100 13.3 True ENSG00000154589 ENSG00000154589 HGNC:17156 MAD2L2 gene MAD2L2 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group V, MIM# 617243" Abnormality of the immune system;HP:0002715 27500492 False 1 0;0;100 13.3 True ENSG00000116670 ENSG00000116670 HGNC:6764 MAP1LC3B2 gene MAP1LC3B2 Expert Review Red;Other Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related;Mollaret s meningitis (recurrent lymphocytic meningitis) due to HSV2 Abnormality of the immune system;HP:0002715 35748970;33310865 False 1 0;0;100 13.3 True ENSG00000258102 ENSG00000258102 HGNC:34390 MASP2 gene MASP2 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal MASP2 deficiency, MIM# 613791 Abnormality of the immune system;HP:0002715 31828694 False 1 0;0;100 13.3 True ENSG00000009724 ENSG00000009724 HGNC:6902 MSH6 gene MSH6 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 3 MIM#619097;constitutional mismatch repair deficiency;immunodeficiency Abnormality of the immune system;HP:0002715 22250089;32048120;30013564 False 1 0;0;100 13.3 True ENSG00000116062 ENSG00000116062 HGNC:7329 MYOF gene MYOF Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-7 (HAE7), MIM#619366 Abnormality of the immune system;HP:0002715 32542751 False 1 0;0;100 13.3 True ENSG00000138119 ENSG00000138119 HGNC:3656 NFKBID gene NFKBID Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 26973645;25347393;22761313 False 1 0;0;100 13.3 True ENSG00000167604 ENSG00000167604 HGNC:15671 NFKBID gene NFKBID Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 26973645;25347393;22761313 False 1 0;0;100 13.3 True ENSG00000167604 ENSG00000167604 HGNC:15671 NFKBID gene NFKBID Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 26973645;25347393;22761313 False 1 0;0;100 13.3 True ENSG00000167604 ENSG00000167604 HGNC:15671 NLRP1 gene NLRP1 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recurrent respiratory papillomatosis Abnormality of the immune system;HP:0002715 31484767 False 1 0;0;100 13.3 True ENSG00000091592 ENSG00000091592 HGNC:14374 NOP10 gene NOP10 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Abnormality of the immune system;HP:0002715 17507419 False 1 0;0;100 13.3 True ENSG00000182117 ENSG00000182117 HGNC:14378 NOS2 gene NOS2 Expert list;Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal inborn error of immunity MONDO:0003778 Abnormality of the immune system;HP:0002715 31995689 False 1 0;0;100 13.3 False ENSG00000007171 ENSG00000007171 HGNC:7873 NOS2 gene NOS2 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Disseminated CMV disease Abnormality of the immune system;HP:0002715 31995689 False 1 0;0;100 13.3 True ENSG00000007171 ENSG00000007171 HGNC:7873 OAS1 gene OAS1 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome in children and adults MONDO:0035375 Abnormality of the immune system;HP:0002715 36538032 False 1 0;0;100 13.3 True ENSG00000089127 ENSG00000089127 HGNC:8086 PACSIN1 gene PACSIN1 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted systemic lupus erythematosis;vasculitis;nephritis Abnormality of the immune system;HP:0002715 36622335 False 1 0;50;50 13.3 True ENSG00000124507 ENSG00000124507 HGNC:8570 PDCD1 gene PDCD1 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 Abnormality of the immune system;HP:0002715 PMID: 34183838 False 1 0;0;100 13.3 True ENSG00000188389 ENSG00000188389 HGNC:8760 PMM2 gene PMM2 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ia, MIM# 212065;Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease" Abnormality of the immune system;HP:0002715 36773065 False 1 0;0;100 13.3 True ENSG00000140650 ENSG00000140650 HGNC:9115 POLE gene POLE Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal MONDO:0002254 syndromic disease Abnormality of the immune system;HP:0002715 PMID: 37833059 False 1 0;0;100 13.3 True ENSG00000177084 ENSG00000177084 HGNC:9177 POLE2 gene POLE2 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Lymphopaenia;Lack of TRECS, absent proliferation in response to antigens;Hypoglobulinaemia;Recurrent infections, disseminated BCG infections;Autoimmunity;Facial dysmorphism Abnormality of the immune system;HP:0002715 26365386 False 1 0;0;100 13.3 True ENSG00000100479 ENSG00000100479 HGNC:9178 POLR3F gene POLR3F Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 Abnormality of the immune system;HP:0002715 30211253 False 1 0;0;100 13.3 True ENSG00000132664 ENSG00000132664 HGNC:15763 POLR3F gene POLR3F Expert list;Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 Abnormality of the immune system;HP:0002715 30211253 False 1 0;0;100 13.3 False ENSG00000132664 ENSG00000132664 HGNC:15763 PSMA5 gene PSMA5 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders Other Inborn error of immunity, MONDO:0003778, PSMA5-related;PRAAS/CANDLE Abnormality of the immune system;HP:0002715 PMID: 37600812 False 1 0;0;100 13.3 True ENSG00000143106 ENSG00000143106 HGNC:9534 PSMG2 gene PSMG2 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Proteasome-associated autoinflammatory syndrome 4, MIM# 619183;CANDLE syndrome;Chronic atypical neutrophilic dermatitis with lipodystrophy" Abnormality of the immune system;HP:0002715 30664889 False 1 0;0;100 13.3 True ENSG00000128789 ENSG00000128789 HGNC:24929 PTEN gene PTEN Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Colitis Abnormality of the immune system;HP:0002715 23962154;24882466;25352295;22266152 False 1 0;50;50 13.3 True ENSG00000171862 ENSG00000171862 HGNC:9588 RAD51 gene RAD51 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anemia complementation group R MONDO:0014986 Abnormality of the immune system;HP:0002715 26253028;26681308;30907510 False 1 0;0;100 13.3 True ENSG00000051180 ENSG00000051180 HGNC:9817 RBSN gene RBSN Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939" Abnormality of the immune system;HP:0002715 29784638 False 1 0;0;100 13.3 True ENSG00000131381 ENSG00000131381 HGNC:20759 RGS10 gene RGS10 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency;short stature Abnormality of the immune system;HP:0002715 34315806;34339853 False 1 0;0;100 13.3 True ENSG00000148908 ENSG00000148908 HGNC:9992 RPL27 gene RPL27 Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 16, MIM# 617408 Abnormality of the immune system;HP:0002715 25424902 False 1 0;0;100 13.3 True ENSG00000131469 ENSG00000131469 HGNC:10328 RPL35 gene RPL35 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 19, MIM# 618312 Abnormality of the immune system;HP:0002715 PMID: 28280134 False 1 0;0;100 13.3 True ENSG00000136942 ENSG00000136942 HGNC:10344 RPS15A gene RPS15A Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 20, MIM# 618313 Abnormality of the immune system;HP:0002715 PMID: 27909223 False 1 0;0;100 13.3 True ENSG00000134419 ENSG00000134419 HGNC:10389 RPS27 gene RPS27 Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 17, MIM# 617409 Abnormality of the immune system;HP:0002715 25424902 False 1 0;0;100 13.3 True ENSG00000177954 ENSG00000177954 HGNC:10416 SEMA3E gene SEMA3E Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 Abnormality of the immune system;HP:0002715 15235037;28634005 False 1 0;0;100 13.3 True ENSG00000170381 ENSG00000170381 HGNC:10727 SIRT1 gene SIRT1 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune disease, MONDO:0007179, SIRT1-related Abnormality of the immune system;HP:0002715 23473037 False 1 0;0;100 13.3 True ENSG00000096717 ENSG00000096717 HGNC:14929 SLC30A7 gene SLC30A7 Expert Review Red;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Ziegler-Huang syndrome, MIM# 620501 Abnormality of the immune system;HP:0002715 36821639 False 1 0;0;100 13.3 True ENSG00000162695 ENSG00000162695 HGNC:19306 TAOK2 gene TAOK2 Expert Review Red;Other Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Generalized verrucosis;abnormal T cell activation Abnormality of the immune system;HP:0002715 28385331 False 1 0;0;100 13.3 True ENSG00000149930 ENSG00000149930 HGNC:16835 THBD gene THBD Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 Abnormality of the immune system;HP:0002715 29500241;19625716 False 1 50;0;50 13.3 True ENSG00000178726 ENSG00000178726 HGNC:11784 TIRAP gene TIRAP Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Staphylococcal disease during childhood Abnormality of the immune system;HP:0002715 28235196 False 1 0;0;100 13.3 True ENSG00000150455 ENSG00000150455 HGNC:17192 TKFC gene TKFC Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, TKFC-related Abnormality of the immune system;HP:0002715 38697782 False 1 0;0;100 13.3 True ENSG00000149476 ENSG00000149476 HGNC:24552 TLR4 gene TLR4 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease MONDO:0005265 Abnormality of the immune system;HP:0002715 32042729;31442584 False 1 0;0;100 13.3 True ENSG00000136869 ENSG00000136869 HGNC:11850 TNFRSF4 gene TNFRSF4 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 16, MIM# 615593 Abnormality of the immune system;HP:0002715 23897980 False 1 0;0;100 13.3 True ENSG00000186827 ENSG00000186827 HGNC:11918 TNFRSF4 gene TNFRSF4 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 16, MIM# 615593" Abnormality of the immune system;HP:0002715 23897980 False 1 0;0;100 13.3 True ENSG00000186827 ENSG00000186827 HGNC:11918 TNFSF12 gene TNFSF12 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent infections, poor antibody responses, decreased immunoglobulins Abnormality of the immune system;HP:0002715 23493554 False 1 0;50;50 13.3 True ENSG00000239697 ENSG00000239697 HGNC:11927 TNFSF12 gene TNFSF12 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent infections, poor antibody responses, decreased immunoglobulins Abnormality of the immune system;HP:0002715 23493554 False 1 0;50;50 13.3 True ENSG00000239697 ENSG00000239697 HGNC:11927 TNFSF13 gene TNFSF13 Expert Review Red;Literature;Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related Abnormality of the immune system;HP:0002715 PMID: 32298700 False 1 0;0;100 13.3 True ENSG00000161955 ENSG00000161955 HGNC:11928 TNFSF9 gene TNFSF9 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Abnormality of the immune system;HP:0002715 35657354 False 1 0;0;100 13.3 True ENSG00000125657 ENSG00000125657 HGNC:11939 TNFSF9 gene TNFSF9 Expert Review Red;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Abnormality of the immune system;HP:0002715 35657354 False 1 0;0;100 13.3 True ENSG00000125657 ENSG00000125657 HGNC:11939 TOM1 gene TOM1 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 85 and autoimmunity, MIM# 619510" Abnormality of the immune system;HP:0002715 31263572 False 1 0;0;100 13.3 True ENSG00000100284 ENSG00000100284 HGNC:11982 TPP1 gene TPP1 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hoyeraal-Hreidarsson syndrome Abnormality of the immune system;HP:0002715 25233904 False 1 0;0;100 13.3 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRAF3 gene TRAF3 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Abnormality of the immune system;HP:0002715 20832341 False 1 0;0;100 13.3 True ENSG00000131323 ENSG00000131323 HGNC:12033 TRAF3 gene TRAF3 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Abnormality of the immune system;HP:0002715 20832341 False 1 0;0;100 13.3 True ENSG00000131323 ENSG00000131323 HGNC:12033 TRIM69 gene TRIM69 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Susceptibility to herpes simplex encephalitis Abnormality of the immune system;HP:0002715 22105173 False 1 0;0;100 13.3 True ENSG00000185880 ENSG00000185880 HGNC:17857 TSR2 gene TSR2 Expert Review Red;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Abnormality of the immune system;HP:0002715 24942156 False 1 0;0;100 13.3 True ENSG00000158526 ENSG00000158526 HGNC:25455 UNC119 gene UNC119 Expert Review Red;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Immunodeficiency 13 MIM#615518 Abnormality of the immune system;HP:0002715 22184408 False 1 0;0;100 13.3 True ENSG00000109103 ENSG00000109103 HGNC:12565 VAV1 gene VAV1 Expert Review Red;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Common variable immnodeficiency Abnormality of the immune system;HP:0002715 20638113;23058036 False 1 0;0;100 13.3 True ENSG00000141968 ENSG00000141968 HGNC:12657