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 C1QA gene C1QA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 Abnormality of complement system;HP:0005339 9225968;21654842;9590289 False 3 100;0;0 0.74 True ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 Abnormality of complement system;HP:0005339 2894352;17513176 False 3 100;0;0 0.74 True ENSG00000173369 ENSG00000173369 HGNC:1242 C1QC gene C1QC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency MIM#613652 Abnormality of complement system;HP:0005339 21654842;8630118;24157463 False 3 100;0;0 0.74 True ENSG00000159189 ENSG00000159189 HGNC:1245 C1R gene C1R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1s deficiency MIM#613783 Abnormality of complement system;HP:0005339 19155518;20191570;18062908;11390518;9856483 False 3 100;0;0 0.74 True ENSG00000182326 ENSG00000182326 HGNC:1247 C2 gene C2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000166278 ENSG00000166278 HGNC:1248 C3 gene C3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C3 deficiency MIM#613779 Abnormality of complement system;HP:0005339 15781264;1944729;11813855;26847111 False 3 100;0;0 0.74 True ENSG00000125730 ENSG00000125730 HGNC:1318 C5 gene C5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C5 deficiency MIM#609536 Abnormality of complement system;HP:0005339 23743184;15488949;15778377;23371790 False 3 50;50;0 0.74 True ENSG00000106804 ENSG00000106804 HGNC:1331 C6 gene C6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C6 deficiency MIM#612446 Abnormality of complement system;HP:0005339 23537992;24378253;17257682;22668955;32670577 False 3 100;0;0 0.74 True ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C7 deficiency MIM#610102 Abnormality of complement system;HP:0005339 22206826;20591074;17407100;16771861;16552475 False 3 100;0;0 0.74 True ENSG00000112936 ENSG00000112936 HGNC:1346 C8B gene C8B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type II MIM#613789 Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 True ENSG00000021852 ENSG00000021852 HGNC:1353 C9 gene C9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C9 deficiency MIM#613825 Abnormality of complement system;HP:0005339 9570574;9703418;9144525;31440263;9634479 False 3 100;0;0 0.74 True ENSG00000113600 ENSG00000113600 HGNC:1358 CD46 gene CD46 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD55 gene CD55 Expert list;Expert Review Green Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300" Abnormality of complement system;HP:0005339 28657829;28657861 False 3 100;0;0 0.74 True ENSG00000196352 ENSG00000196352 HGNC:2665 CD59 gene CD59 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000085063 ENSG00000085063 HGNC:1689 CFD gene CFD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000205403 ENSG00000205403 HGNC:5394 CFP gene CFP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000126759 ENSG00000126759 HGNC:8864 SERPING1 gene SERPING1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 3 100;0;0 0.74 False ENSG00000149131 ENSG00000149131 HGNC:1228 C4A gene C4A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C4a deficiency MIM#614380;susceptibility systemic lupus erythematosus Abnormality of complement system;HP:0005339 22387014;22737222;15998580;10529130;15294999;32048120 False 2 0;100;0 0.74 True ENSG00000244731 ENSG00000244731 HGNC:1323 C4B gene C4B Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal susceptibility to autoimmune disease;C4B deficiency MIM#614379 Abnormality of complement system;HP:0005339 34764957;12626442;22387014;17503323;32048120 False 2 0;100;0 0.74 True ENSG00000224389 ENSG00000224389 HGNC:1324 C8A gene C8A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type I MIM#613790 Abnormality of complement system;HP:0005339 9759902;32769119 False 2 0;100;0 0.74 True ENSG00000157131 ENSG00000157131 HGNC:1352 CFB gene CFB Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal Complement factor B deficiency, MIM# 615561 Abnormality of complement system;HP:0005339 24152280 False 2 0;100;0 0.74 True ENSG00000243649 ENSG00000243649 HGNC:1037 FCN3 gene FCN3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to ficolin 3 deficiency, MIM# 613860 Abnormality of complement system;HP:0005339 25662573;22226667;19535802;20971976 False 2 0;100;0 0.74 True ENSG00000142748 ENSG00000142748 HGNC:3625 C8G gene C8G Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 1 0;0;100 0.74 True ENSG00000176919 ENSG00000176919 HGNC:1354 CFHR1 gene CFHR1 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 1 0;50;50 0.74 True ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN Abnormality of complement system;HP:0005339 24334459;23728178;20800271 False 1 0;0;100 0.74 True ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400 Abnormality of complement system;HP:0005339 False 1 0;50;50 0.74 True ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 1 0;0;100 0.74 True ENSG00000134365 ENSG00000134365 HGNC:16979 CFHR5 gene CFHR5 Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Nephropathy due to CFHR5 deficiency, MIM# 614809 Abnormality of complement system;HP:0005339 False 1 50;0;50 0.74 True ENSG00000134389 ENSG00000134389 HGNC:24668 ITGAM gene ITGAM Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders Unknown Abnormality of complement system;HP:0005339 False 1 0;0;100 0.74 True ENSG00000169896 ENSG00000169896 HGNC:6149 MASP2 gene MASP2 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders BIALLELIC, autosomal or pseudoautosomal MASP2 deficiency, MIM# 613791 Abnormality of complement system;HP:0005339 31828694 False 1 0;0;100 0.74 True ENSG00000009724 ENSG00000009724 HGNC:6902 THBD gene THBD Expert Review Green;Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Complement Deficiencies Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 Abnormality of complement system;HP:0005339 29500241;19625716 False 1 50;0;50 0.74 True ENSG00000178726 ENSG00000178726 HGNC:11784