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 ACTB gene ACTB Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM# 243310 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000075624 ENSG00000075624 HGNC:132 ALPI gene ALPI Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, MONDO:0005265, ALPI-related Abnormality of the immune system;HP:0002715 29567797;32084423 False 2 0;100;0 13.3 True ENSG00000163295 ENSG00000163295 HGNC:437 ANGPT1 gene ANGPT1 Expert Review Amber;Other Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-5 (HAE5), MIM#619361 Abnormality of the immune system;HP:0002715 28601681;24852101;30689269;10617467;8980224 False 2 0;100;0 13.3 True ENSG00000154188 ENSG00000154188 HGNC:484 AP1S3 gene AP1S3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Psoriasis 15, pustular, susceptibility to} 616106 Abnormality of the immune system;HP:0002715 24791904;27388993 False 2 0;100;0 13.3 True ENSG00000152056 ENSG00000152056 HGNC:18971 ARHGEF1 gene ARHGEF1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of the immune system;HP:0002715 32048120;30521495;16286020 False 2 0;100;0 13.3 True ENSG00000076928 ENSG00000076928 HGNC:681 ARHGEF1 gene ARHGEF1 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 62, MIM#618459 Abnormality of the immune system;HP:0002715 32048120;30521495;16286020 False 2 0;50;50 13.3 True ENSG00000076928 ENSG00000076928 HGNC:681 BLK gene BLK Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted common variable immunodeficiency Abnormality of the immune system;HP:0002715 25926555 False 2 0;100;0 13.3 True ENSG00000136573 ENSG00000136573 HGNC:1057 C17orf62 gene C17orf62 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease Abnormality of the immune system;HP:0002715 28600779, 30361506 False 2 0;100;0 13.3 True ENSG00000178927 ENSG00000178927 HGNC:28672 C4A gene C4A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C4a deficiency MIM#614380;susceptibility systemic lupus erythematosus Abnormality of the immune system;HP:0002715 22387014;22737222;15998580;10529130;15294999;32048120 False 2 0;100;0 13.3 True ENSG00000244731 ENSG00000244731 HGNC:1323 C4B gene C4B Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal susceptibility to autoimmune disease;C4B deficiency MIM#614379 Abnormality of the immune system;HP:0002715 34764957;12626442;22387014;17503323;32048120 False 2 0;100;0 13.3 True ENSG00000224389 ENSG00000224389 HGNC:1324 C8A gene C8A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type I MIM#613790 Abnormality of the immune system;HP:0002715 9759902;32769119 False 2 0;100;0 13.3 True ENSG00000157131 ENSG00000157131 HGNC:1352 CARD8 gene CARD8 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inflammatory bowel disease-30, MIM#619079 Abnormality of the immune system;HP:0002715 29408806 False 2 0;50;50 13.3 True ENSG00000105483 ENSG00000105483 HGNC:17057 CASP8 gene CASP8 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Abnormality of the immune system;HP:0002715 12353035;25814141;12654726;17213198;16148088 False 2 0;50;50 13.3 True ENSG00000064012 ENSG00000064012 HGNC:1509 CASP8 gene CASP8 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Abnormality of the immune system;HP:0002715 12353035;25814141;12654726;17213198;16148088 False 2 0;100;0 13.3 True ENSG00000064012 ENSG00000064012 HGNC:1509 CD274 gene CD274 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 Abnormality of the immune system;HP:0002715 PMID: 38634869 False 2 0;100;0 13.3 True ENSG00000120217 ENSG00000120217 HGNC:17635 CD28 gene CD28 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Abnormality of the immune system;HP:0002715 34214472 False 2 0;100;0 13.3 True ENSG00000178562 ENSG00000178562 HGNC:1653 CD28 gene CD28 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901;isolated susceptibility to cutaneous - and -HPVs Abnormality of the immune system;HP:0002715 PMID: 34214472 False 2 0;50;50 13.3 True ENSG00000178562 ENSG00000178562 HGNC:1653 CD8A gene CD8A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal CD8 deficiency, familial, MIM# 608957 Abnormality of the immune system;HP:0002715 11435463;17658607;26563160 False 2 0;100;0 13.3 True ENSG00000153563 ENSG00000153563 HGNC:1706 CEBPE gene CEBPE Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 108 with autoinflammation , MIM# 260570" Abnormality of the immune system;HP:0002715 PMID: 31201888 False 2 0;100;0 13.3 True Other ENSG00000092067 ENSG00000092067 HGNC:1836 CFB gene CFB Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Complement factor B deficiency, MIM# 615561 Abnormality of the immune system;HP:0002715 24152280 False 2 0;100;0 13.3 True ENSG00000243649 ENSG00000243649 HGNC:1037 COPG1 gene COPG1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 128, MIM# 620983 Abnormality of the immune system;HP:0002715 PMID: 33529166 False 2 0;50;50 13.3 True ENSG00000181789 ENSG00000181789 HGNC:2236 CTNNBL1 gene CTNNBL1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846" Abnormality of the immune system;HP:0002715 32484799 False 2 0;100;0 13.3 True ENSG00000132792 ENSG00000132792 HGNC:15879 CTNNBL1 gene CTNNBL1 Expert Review Amber;Expert list;Expert Review Amber;Literature;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal common variable immunodeficiency MONDO:0015517 Abnormality of the immune system;HP:0002715 23343763;32484799 False 2 0;100;0 13.3 True ENSG00000132792 ENSG00000132792 HGNC:15879 CXCR4 gene CXCR4 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome, MIM# 193670 Abnormality of the immune system;HP:0002715 12692554 False 2 0;100;0 13.3 True ENSG00000121966 ENSG00000121966 HGNC:2561 DOCK2 gene DOCK2 Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic hemophagocytic lymphohistiocytosis MONDO:0015541 Abnormality of the immune system;HP:0002715 PMID: 36836791 False 2 50;50;0 13.3 True ENSG00000134516 ENSG00000134516 HGNC:2988 EPCAM gene EPCAM Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217 Abnormality of the immune system;HP:0002715 27302973 False 2 0;100;0 13.3 True ENSG00000119888 ENSG00000119888 HGNC:11529 ERBIN gene ERBIN Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined immunodeficiency, MONDO:0015131, ERBIN-related;Recurrent respiratory infections;Susceptibility to S.aureus;Eczema;Hyperextensible joints;Scoliosis;Arterial dilatation in some Abnormality of the immune system;HP:0002715 28126831 False 2 0;100;0 13.3 True ENSG00000112851 ENSG00000112851 HGNC:15842 FCGR3A gene FCGR3A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, MIM# 615707 Abnormality of the immune system;HP:0002715 8874200;23006327;8608639 False 2 0;100;0 13.3 True ENSG00000203747 ENSG00000203747 HGNC:3619 FCGR3A gene FCGR3A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, MIM# 615707 Abnormality of the immune system;HP:0002715 8874200;23006327;8608639 False 2 0;100;0 13.3 True ENSG00000203747 ENSG00000203747 HGNC:3619 FCN3 gene FCN3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to ficolin 3 deficiency, MIM# 613860 Abnormality of the immune system;HP:0002715 25662573;22226667;19535802;20971976 False 2 0;100;0 13.3 True ENSG00000142748 ENSG00000142748 HGNC:3625 FGL2 gene FGL2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, FGL2-related Abnormality of the immune system;HP:0002715 PMID: 36243222 False 2 0;50;50 13.3 True ENSG00000127951 ENSG00000127951 HGNC:3696 FLT3LG gene FLT3LG Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 125 MIM#620926 Abnormality of the immune system;HP:0002715 10828034;38701783 False 2 0;100;0 13.3 True ENSG00000090554 ENSG00000090554 HGNC:3766 FLT3LG gene FLT3LG Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 125, MIM# 620926 Abnormality of the immune system;HP:0002715 38701783 False 2 0;33;67 13.3 True ENSG00000090554 ENSG00000090554 HGNC:3766 FOXI3 gene FOXI3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted thymic dysplasia MONDO:0004195 Abnormality of the immune system;HP:0002715 35987349;31600545 False 2 0;100;0 13.3 True ENSG00000214336 ENSG00000214336 HGNC:35123 GATA3 gene GATA3 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immune dysregulation;Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Abnormality of the immune system;HP:0002715 PMID: 31238969 False 2 0;100;0 13.3 True Other ENSG00000107485 ENSG00000107485 HGNC:4172 GUK1 gene GUK1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Abnormality of the immune system;HP:0002715 39230499 False 2 0;100;0 13.3 True ENSG00000143774 ENSG00000143774 HGNC:4693 HCK gene HCK Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Abnormality of the immune system;HP:0002715 PMID: 34536415 False 2 0;100;0 13.3 True Other ENSG00000101336 ENSG00000101336 HGNC:4840 HOXA11 gene HOXA11 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 Abnormality of the immune system;HP:0002715 11101832;16765069 False 2 0;100;0 13.3 True ENSG00000005073 ENSG00000005073 HGNC:5101 HSPA1L gene HSPA1L Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265, HSPA1L-related Abnormality of the immune system;HP:0002715 28126021 False 2 0;100;0 13.3 True ENSG00000204390 ENSG00000204390 HGNC:5234 ICOSLG gene ICOSLG Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia Abnormality of the immune system;HP:0002715 31532372;30498080 False 2 0;100;0 13.3 True ENSG00000160223 ENSG00000160223 HGNC:17087 ICOSLG gene ICOSLG Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 119, MIM# 620825;Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia Abnormality of the immune system;HP:0002715 31532372;30498080 False 2 0;100;0 13.3 True ENSG00000160223 ENSG00000160223 HGNC:17087 IFNG gene IFNG Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal inherited susceptibility to mycobacterial diseases MONDO:0019146 Abnormality of the immune system;HP:0002715 32163377;38363432 False 2 0;100;0 13.3 True ENSG00000111537 ENSG00000111537 HGNC:5438 IGKC gene IGKC Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576 Abnormality of the immune system;HP:0002715 https://search.clinicalgenome.org/CCID:005121 False 2 0;100;0 13.3 True ENSG00000211592 ENSG00000211592 HGNC:5716 IKBKE gene IKBKE Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Abnormality of the immune system;HP:0002715 37937644 False 2 0;100;0 13.3 True - - HGNC:14552 IKBKE gene IKBKE Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Abnormality of the immune system;HP:0002715 PMID: 37937644 False 2 0;100;0 13.3 True - - HGNC:14552 IL27RA gene IL27RA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Abnormality of the immune system;HP:0002715 38509369 False 2 0;100;0 13.3 True ENSG00000104998 ENSG00000104998 HGNC:17290 IL27RA gene IL27RA Expert Review Amber;Expert list;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Abnormality of the immune system;HP:0002715 38509369 False 2 0;100;0 13.3 True ENSG00000104998 ENSG00000104998 HGNC:17290 IL6R gene IL6R Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recurrent pyogenic infections, cold abscesses;High circulating IL-6 levels;High IgE;IgE recurrent infection syndrome, MIM#618944 Abnormality of the immune system;HP:0002715 31235509 False 2 0;100;0 13.3 True ENSG00000160712 ENSG00000160712 HGNC:6019 INO80 gene INO80 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Primary immunodeficiency, MONDO:0003778 Abnormality of the immune system;HP:0002715 25312759 False 2 0;100;0 13.3 True ENSG00000128908 ENSG00000128908 HGNC:26956 IRF3 gene IRF3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532" Abnormality of the immune system;HP:0002715 26216125;20660188;26513235 False 2 0;100;0 13.3 True ENSG00000126456 ENSG00000126456 HGNC:6118 IRF3 gene IRF3 Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Abnormality of the immune system;HP:0002715 26216125;20660188;26513235 False 2 0;100;0 13.3 False ENSG00000126456 ENSG00000126456 HGNC:6118 IRF9 gene IRF9 Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 65, susceptibility to viral infections MONDO:0032848 Abnormality of the immune system;HP:0002715 30826365;30143481 False 2 0;100;0 13.3 False ENSG00000213928 ENSG00000213928 HGNC:6131 IRF9 gene IRF9 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 65, susceptibility to viral infections 618648" Abnormality of the immune system;HP:0002715 30826365;30143481 False 2 0;100;0 13.3 True ENSG00000213928 ENSG00000213928 HGNC:6131 ITGAV gene ITGAV Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, ITGAV-related Abnormality of the immune system;HP:0002715 39526957 False 2 0;100;0 13.3 True ENSG00000138448 ENSG00000138448 HGNC:6150 JAK1 gene JAK1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Susceptibility to mycobacteria and viruses;Viral infections;Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Abnormality of the immune system;HP:0002715 28008925;30671064 False 2 0;100;0 13.3 True ENSG00000162434 ENSG00000162434 HGNC:6190 KIF23 gene KIF23 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, congenital dyserythropoietic, type IIIA 105600 Abnormality of the immune system;HP:0002715 23570799;33159567 False 2 0;100;0 13.3 True ENSG00000137807 ENSG00000137807 HGNC:6392 KMT2A gene KMT2A Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome MIM#605130 Abnormality of the immune system;HP:0002715 32048120;28623346;27320412 False 2 0;100;0 13.3 True ENSG00000118058 ENSG00000118058 HGNC:7132 KNG1 gene KNG1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-6 (HAE6), MIM#619363 Abnormality of the immune system;HP:0002715 31087670;33114181 False 2 0;100;0 13.3 True ENSG00000113889 ENSG00000113889 HGNC:6383 LAMTOR2 gene LAMTOR2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 Abnormality of the immune system;HP:0002715 17195838;24092934 False 2 0;100;0 13.3 True ENSG00000116586 ENSG00000116586 HGNC:29796 LCP1 gene LCP1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related Abnormality of the immune system;HP:0002715 38710235 False 2 0;100;0 13.3 True ENSG00000136167 ENSG00000136167 HGNC:6528 LCP1 gene LCP1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related Abnormality of the immune system;HP:0002715 PMID: 38710235 False 2 0;100;0 13.3 True Other ENSG00000136167 ENSG00000136167 HGNC:6528 LCP2 gene LCP2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 81, MIM# 619374;Severe combined immunodeficiency Abnormality of the immune system;HP:0002715 33231617 False 2 0;100;0 13.3 True ENSG00000043462 ENSG00000043462 HGNC:6529 MADD gene MADD Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal HLH, enteropathy Abnormality of the immune system;HP:0002715 PMID: 36206192 False 2 50;50;0 13.3 True ENSG00000110514 ENSG00000110514 HGNC:6766 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related;Combined Immune deficiency Abnormality of the immune system;HP:0002715 38622837;35637269;31775018 False 2 0;33;67 13.3 True ENSG00000013288 ENSG00000013288 HGNC:29623 MAPK8 gene MAPK8 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chronic mucocutaneous candidiasis;Connective tissue disorders Abnormality of the immune system;HP:0002715 31784499 False 2 0;100;0 13.3 True ENSG00000107643 ENSG00000107643 HGNC:6881 MASTL gene MASTL Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000120539 ENSG00000120539 HGNC:19042 MCM10 gene MCM10 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313;Susceptibility to CMV Abnormality of the immune system;HP:0002715 32865517;33712616 False 2 0;50;50 13.3 True ENSG00000065328 ENSG00000065328 HGNC:18043 MCM10 gene MCM10 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000065328 ENSG00000065328 HGNC:18043 MCM4 gene MCM4 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54 MIM# 609981;Decreased NK cell number and function;Viral infections (EBV, HSV, VZV);Short stature;B cell lymphoma;Adrenal failure;Failure to thrive;Microcephaly;Increased chromosomal breakage;Hyperpigmentation;Lymphadenopathy Abnormality of the immune system;HP:0002715 22354167;22354170;22499342 False 2 0;100;0 13.3 True ENSG00000104738 ENSG00000104738 HGNC:6947 MDM4 gene MDM4 Expert Review Amber;Other Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted bone marrow failure syndrome MONDO:0000159, MDM4-related Abnormality of the immune system;HP:0002715 32300648;33104793 False 2 0;100;0 13.3 True ENSG00000198625 ENSG00000198625 HGNC:6974 MKL1 gene MKL1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia with combined immune deficiency Abnormality of the immune system;HP:0002715 32128589;26224645 False 2 0;100;0 13.3 True ENSG00000196588 ENSG00000196588 HGNC:14334 MS4A1 gene MS4A1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 5, MIM# 613495 Abnormality of the immune system;HP:0002715 20038800 False 2 0;50;50 13.3 True ENSG00000156738 ENSG00000156738 HGNC:7315 MS4A1 gene MS4A1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 5, MIM# 613495 Abnormality of the immune system;HP:0002715 20038800 False 2 0;50;50 13.3 True ENSG00000156738 ENSG00000156738 HGNC:7315 NFAT5 gene NFAT5 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune deficiency disease, MONDO:0003778, NFAT5-related;Recurrent infections;Autoimmune enterocolopathy;EBV susceptibility;HLH Abnormality of the immune system;HP:0002715 25667416;36238298 False 2 0;50;50 13.3 True ENSG00000102908 ENSG00000102908 HGNC:7774 NFATC1 gene NFATC1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, NFATC1-related;Combined Immune deficiency Abnormality of the immune system;HP:0002715 PMID: 37249233 False 2 0;100;0 13.3 True ENSG00000131196 ENSG00000131196 HGNC:7775 NFATC2 gene NFATC2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Abnormality of the immune system;HP:0002715 35789258;38427060 False 2 0;33;67 13.3 True ENSG00000101096 ENSG00000101096 HGNC:7776 NFATC2 gene NFATC2 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Abnormality of the immune system;HP:0002715 35789258;38427060 False 2 0;33;67 13.3 True ENSG00000101096 ENSG00000101096 HGNC:7776 NLRC4 gene NLRC4 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with infantile enterocolitis, MIM# 616050 Abnormality of the immune system;HP:0002715 25217959;25217960 False 2 0;100;0 13.3 True Other ENSG00000091106 ENSG00000091106 HGNC:16412 NOP10 gene NOP10 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 Abnormality of the immune system;HP:0002715 17507419;32139460;32554502 False 2 0;100;0 13.3 True ENSG00000182117 ENSG00000182117 HGNC:14378 NOX1 gene NOX1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Inflammatory bowel disease, MONDO:0005265, NOX1-related Abnormality of the immune system;HP:0002715 PMID: 29091079;32064493 False 2 0;100;0 13.3 True ENSG00000007952 ENSG00000007952 HGNC:7889 NSMCE3 gene NSMCE3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Abnormality of the immune system;HP:0002715 27427983 False 2 0;100;0 13.3 True ENSG00000185115 ENSG00000185115 HGNC:7677 P2RY8 gene P2RY8 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Systemic lupus erythematosus, MONDO:0007915, P2RY8-related Abnormality of the immune system;HP:0002715 34889940 False 2 50;50;0 13.3 True ENSG00000182162 ENSG00000182162 HGNC:15524 PAX5 gene PAX5 Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, PAX5-related;Hypogammaglobulinaemia Abnormality of the immune system;HP:0002715 PMID: 35947077 False 2 33;67;0 13.3 True ENSG00000196092 ENSG00000196092 HGNC:8619 PI4KA gene PI4KA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Abnormality of the immune system;HP:0002715 34415310 False 2 0;100;0 13.3 True ENSG00000241973 ENSG00000241973 HGNC:8983 PIK3CG gene PIK3CG Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 97 with autoinflammation, MIM# 619802;Humoral deficiency;Immune dysregulation;HLH Abnormality of the immune system;HP:0002715 PMID: 31554793;PMID: 33054089 False 2 0;100;0 13.3 True ENSG00000105851 ENSG00000105851 HGNC:8978 PLCG1 gene PLCG1 Expert Review Amber;Expert Review;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Abnormality of the immune system;HP:0002715 PMID: 37422272 False 2 0;100;0 13.3 True Other ENSG00000124181 ENSG00000124181 HGNC:9065 PMS2 gene PMS2 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, MIM# 276300 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000122512 ENSG00000122512 HGNC:9122 PMVK gene PMVK Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, PMVK-related Abnormality of the immune system;HP:0002715 PMID: 37364720;36410683 False 2 0;100;0 13.3 False ENSG00000163344 ENSG00000163344 HGNC:9141 POLD2 gene POLD2 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145;Low CD4 T cells;Low B cells, normal maturation;recurrent respiratory tract infections, skin infections, warts and molluscum;short stature;intellectual disability Abnormality of the immune system;HP:0002715 31449058;36528861 False 2 0;50;50 13.3 True ENSG00000106628 ENSG00000106628 HGNC:9176 POLD3 gene POLD3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 122, MIM# 620869 Abnormality of the immune system;HP:0002715 38099988;37030525 False 2 0;100;0 13.3 True ENSG00000077514 ENSG00000077514 HGNC:20932 POLR3A gene POLR3A Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection Abnormality of the immune system;HP:0002715 28783042;29728610 False 2 0;100;0 13.3 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3A gene POLR3A Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted varicella zoster infection MONDO:0005608 Abnormality of the immune system;HP:0002715 28783042;29728610 False 2 0;100;0 13.3 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3C gene POLR3C Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted varicella zoster infection MONDO:0005608 Abnormality of the immune system;HP:0002715 28783042 False 2 0;100;0 13.3 False ENSG00000186141 ENSG00000186141 HGNC:30076 POLR3C gene POLR3C Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection Abnormality of the immune system;HP:0002715 28783042 False 2 0;100;0 13.3 True ENSG00000186141 ENSG00000186141 HGNC:30076 POU2AF1 gene POU2AF1 Expert Review Amber;Expert Review;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia, MONDO:0015977, POU2AF1-related Abnormality of the immune system;HP:0002715 PMID: 33571536 False 2 0;33;67 13.3 True ENSG00000110777 ENSG00000110777 HGNC:9211 PSMA3 gene PSMA3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Other Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 Abnormality of the immune system;HP:0002715 26524591 False 2 0;100;0 13.3 True ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB4 gene PSMB4 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Other Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Abnormality of the immune system;HP:0002715 26524591 False 2 0;100;0 13.3 True ENSG00000159377 ENSG00000159377 HGNC:9541 PTPN13 gene PTPN13 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal bone marrow failure syndrome MONDO#0000159, PTPN13-related Abnormality of the immune system;HP:0002715 35643866 False 2 0;100;0 13.3 True ENSG00000163629 ENSG00000163629 HGNC:9646 PTPN2 gene PTPN2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lupus;arthritis;common variable immunodeficiency Abnormality of the immune system;HP:0002715 32499645;27658548 False 2 0;100;0 13.3 True ENSG00000175354 ENSG00000175354 HGNC:9650 RAC2 gene RAC2 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Common variable immunodeficiency Abnormality of the immune system;HP:0002715 25512081;32048120;14564011 False 2 0;100;0 13.3 True ENSG00000128340 ENSG00000128340 HGNC:9802 RAP1B gene RAP1B Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Abnormality of the immune system;HP:0002715 35451551;32627184;26280580 False 2 0;100;0 13.3 True ENSG00000127314 ENSG00000127314 HGNC:9857 RASGRP1 gene RASGRP1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 64 MIM#618534" Abnormality of the immune system;HP:0002715 29155103;39752212 False 2 0;100;0 13.3 True ENSG00000172575 ENSG00000172575 HGNC:9878 RC3H1 gene RC3H1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Relapsing HLH;Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998" Abnormality of the immune system;HP:0002715 31636267 False 2 0;100;0 13.3 True ENSG00000135870 ENSG00000135870 HGNC:29434 REL gene REL Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 92, MIM# 619652;Combined immunodeficiency;T cells: normal, decreased memory CD4, poor proliferation;B cells: low, mostly naive, few switched memory B cells, impaired proliferation;Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms;Defective innate immunity Abnormality of the immune system;HP:0002715 31103457;34623332 False 2 50;50;0 13.3 True ENSG00000162924 ENSG00000162924 HGNC:9954 REXO2 gene REXO2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related Abnormality of the immune system;HP:0002715 PMID: 39107301 False 2 0;100;0 13.3 True Other ENSG00000076043 ENSG00000076043 HGNC:17851 RFWD3 gene RFWD3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group W, MIM# 617784" Abnormality of the immune system;HP:0002715 28691929;38058754 False 2 0;50;50 13.3 True ENSG00000168411 ENSG00000168411 HGNC:25539 RHOG gene RHOG Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Genetic HLH, MONDO:0015541, RHOG-related Abnormality of the immune system;HP:0002715 PMID: 33513601 False 2 0;50;50 13.3 True ENSG00000177105 ENSG00000177105 HGNC:672 RHOH gene RHOH Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Abnormality of the immune system;HP:0002715 22850876;27574848;38775840 False 2 0;50;50 13.3 True ENSG00000168421 ENSG00000168421 HGNC:686 RIPK3 gene RIPK3 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related Abnormality of the immune system;HP:0002715 37083451 False 2 0;100;0 13.3 False ENSG00000129465 ENSG00000129465 HGNC:10021 RIPK3 gene RIPK3 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related;Recurrent HSV encephalitis Abnormality of the immune system;HP:0002715 PMID: 37083451 False 2 0;100;0 13.3 True ENSG00000129465 ENSG00000129465 HGNC:10021 RNASEL gene RNASEL Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Abnormality of the immune system;HP:0002715 PMID: 36538032 False 2 0;100;0 13.3 True ENSG00000135828 ENSG00000135828 HGNC:10050 RNASEL gene RNASEL Expert Review Amber;Expert list;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Abnormality of the immune system;HP:0002715 36538032;9351818 False 2 0;100;0 13.3 True ENSG00000135828 ENSG00000135828 HGNC:10050 RNF31 gene RNF31 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 Abnormality of the immune system;HP:0002715 26008899;30936877 False 2 0;100;0 13.3 True ENSG00000092098 ENSG00000092098 HGNC:16031 RNF31 gene RNF31 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 Abnormality of the immune system;HP:0002715 26008899;30936877 False 2 0;100;0 13.3 True ENSG00000092098 ENSG00000092098 HGNC:16031 RPL18 gene RPL18 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 18, MIM# 618310 Abnormality of the immune system;HP:0002715 PMID: 28280134, 32075953 False 2 0;100;0 13.3 True ENSG00000063177 ENSG00000063177 HGNC:10310 RPL31 gene RPL31 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of the immune system;HP:0002715 25042156;25424902 False 2 0;100;0 13.3 True ENSG00000071082 ENSG00000071082 HGNC:10334 RPL8 gene RPL8 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia MONDO:0015253 Abnormality of the immune system;HP:0002715 PMID: 25424902, 34961992 False 2 0;100;0 13.3 True ENSG00000161016 ENSG00000161016 HGNC:10368 RPL9 gene RPL9 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of the immune system;HP:0002715 29114930;20116044;31799629 False 2 0;100;0 13.3 True ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of the immune system;HP:0002715 32790018 False 2 0;100;0 13.3 True ENSG00000008988 ENSG00000008988 HGNC:10405 RPS28 gene RPS28 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Abnormality of the immune system;HP:0002715 PMID: 24942156 False 2 0;100;0 13.3 True ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 13, MIM# 615909 Abnormality of the immune system;HP:0002715 24829207 False 2 0;100;0 13.3 True ENSG00000213741 ENSG00000213741 HGNC:10419 SCGN gene SCGN Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal ulcerative colitis, MONDO:0005101 Abnormality of the immune system;HP:0002715 31663849 False 2 0;100;0 13.3 True ENSG00000079689 ENSG00000079689 HGNC:16941 SH3KBP1 gene SH3KBP1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 61, MIM# 300310" Abnormality of the immune system;HP:0002715 29636373;21708930 False 2 0;50;50 13.3 True ENSG00000147010 ENSG00000147010 HGNC:13867 SLC19A1 gene SLC19A1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, SLC19A1-related MONDO:0015131 Abnormality of the immune system;HP:0002715 36517554,36745868 False 2 0;100;0 13.3 True ENSG00000173638 ENSG00000173638 HGNC:10937 SLC9A3 gene SLC9A3 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 8, secretory sodium, congenital 616868;Very Early Onset Inflammatory Bowel Disease Abnormality of the immune system;HP:0002715 26358773;33346580 False 2 0;100;0 13.3 True ENSG00000066230 ENSG00000066230 HGNC:11073 SPPL2A gene SPPL2A Literature;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 86, MIM#619549;Susceptibility to mycobacteria and Salmonella Abnormality of the immune system;HP:0002715 30127434 False 2 50;50;0 13.3 True ENSG00000138600 ENSG00000138600 HGNC:30227 SRP19 gene SRP19 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, MONDO:0001475, SRP19-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000153037 ENSG00000153037 HGNC:11300 SRP19 gene SRP19 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, MONDO:0001475, SRP19-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000153037 ENSG00000153037 HGNC:11300 SRP68 gene SRP68 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534" Abnormality of the immune system;HP:0002715 32273475 False 2 0;100;0 13.3 True ENSG00000167881 ENSG00000167881 HGNC:11302 SRP72 gene SRP72 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome 1, MIM# 614675 Abnormality of the immune system;HP:0002715 22541560;31254415 False 2 0;100;0 13.3 True ENSG00000174780 ENSG00000174780 HGNC:11303 SRPRA gene SRPRA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000182934 ENSG00000182934 HGNC:11307 SRPRA gene SRPRA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000182934 ENSG00000182934 HGNC:11307 TAPBP gene TAPBP Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, MIM# 604571;MHC class I deficiency 3, MIM# 620814 Abnormality of the immune system;HP:0002715 38866210;12149238 False 2 0;50;50 13.3 True ENSG00000231925 ENSG00000231925 HGNC:11566 TBX21 gene TBX21 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 88, MIM# 619630;Susceptibility to mycobacterial disease Abnormality of the immune system;HP:0002715 PMID: 33296702;PMID: 34160550 False 2 0;100;0 13.3 True ENSG00000073861 ENSG00000073861 HGNC:11599 TCIRG1 gene TCIRG1 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542 Abnormality of the immune system;HP:0002715 24753205;35573728 False 2 0;100;0 13.3 True ENSG00000110719 ENSG00000110719 HGNC:11647 TERC gene TERC Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989;{Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000164362 ENSG00000164362 HGNC:11730 TFRC gene TFRC Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 46, MIM# 616740;T cells: normal number, poor proliferation;B cells: normal number, low memory B cells;recurrent infections, neutorpaenia;thrombocytopaenia" Abnormality of the immune system;HP:0002715 26642240 False 2 0;100;0 13.3 True ENSG00000072274 ENSG00000072274 HGNC:11763 TGFB1 gene TGFB1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213" Abnormality of the immune system;HP:0002715 29483653 False 2 0;100;0 13.3 True ENSG00000105329 ENSG00000105329 HGNC:11766 TGFB1 gene TGFB1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Abnormality of the immune system;HP:0002715 29483653 False 2 0;100;0 13.3 True ENSG00000105329 ENSG00000105329 HGNC:11766 TINF2 gene TINF2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, MIM# 613990;Revesz syndrome, MIM# 268130 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000092330 ENSG00000092330 HGNC:11824 TNFRSF13C gene TNFRSF13C Expert Review Amber;Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 4, MIM# 613494 Abnormality of the immune system;HP:0002715 19666484;26613719 False 2 0;100;0 13.3 True ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF13C gene TNFRSF13C Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 4, MIM# 613494 Abnormality of the immune system;HP:0002715 19666484;26613719 False 2 0;100;0 13.3 True ENSG00000159958 ENSG00000159958 HGNC:17755 TP53 gene TP53 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bone marrow failure syndrome 5, MIM# 618165" Abnormality of the immune system;HP:0002715 30146126;24013501;23770245 False 2 0;100;0 13.3 True Other ENSG00000141510 ENSG00000141510 HGNC:11998 TRAC gene TRAC Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Abnormality of the immune system;HP:0002715 21206088 False 2 50;50;0 13.3 True ENSG00000229164 ENSG00000277734 HGNC:12029 TRAF3IP2 gene TRAF3IP2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 8, MIM# 615527 Abnormality of the immune system;HP:0002715 24120361;31292894;20660351 False 2 0;100;0 13.3 True ENSG00000056972 ENSG00000056972 HGNC:1343 TRAF3IP2 gene TRAF3IP2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 8, MIM# 615527 Abnormality of the immune system;HP:0002715 24120361;31292894;20660351 False 2 0;100;0 13.3 True ENSG00000056972 ENSG00000056972 HGNC:1343 TYMS gene TYMS Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, digenic, MIM#620040 Abnormality of the immune system;HP:0002715 35931051 False 2 0;50;50 13.3 True ENSG00000176890 ENSG00000176890 HGNC:12441 UNC93B1 gene UNC93B1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Abnormality of the immune system;HP:0002715 16973841;29768176 False 2 0;100;0 13.3 True ENSG00000110057 ENSG00000110057 HGNC:13481 UNC93B1 gene UNC93B1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Abnormality of the immune system;HP:0002715 16973841;29768176 False 2 0;100;0 13.3 True ENSG00000110057 ENSG00000110057 HGNC:13481 WIPF1 gene WIPF1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2, MIM# 614493 Abnormality of the immune system;HP:0002715 17312144;17890224 False 2 0;100;0 13.3 True ENSG00000115935 ENSG00000115935 HGNC:12736 XRCC2 gene XRCC2 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group U, MIM# 617247 Abnormality of the immune system;HP:0002715 27208205;22232082;11118202 False 2 0;100;0 13.3 True ENSG00000196584 ENSG00000196584 HGNC:12829 ZAP70 gene ZAP70 Expert Review Amber;Other Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2;inflammatory colitis Abnormality of the immune system;HP:0002715 26783323;32819795;32633164 False 2 0;100;0 13.3 True ENSG00000115085 ENSG00000115085 HGNC:12858