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 ADA gene ADA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, MIM# 102700;MONDO:0007064 Combined immunodeficiency;HP:0005387 3007108;3475710;8178821;8227344;2783588 False 3 100;0;0 1.114 True ENSG00000196839 ENSG00000196839 HGNC:186 AK2 gene AK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis MIM# 267500;Combined immunodeficiency;neutropaenia;leukopaenia;lymphopaenia;agranulocytosis;deafness;MONDO:0009973 Combined immunodeficiency;HP:0005387 19043417;19043416 False 3 100;0;0 1.114 True ENSG00000004455 ENSG00000004455 HGNC:362 ARPC1B gene ARPC1B Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718" Combined immunodeficiency;HP:0005387 28368018;33679784 False 3 100;0;0 1.114 True ENSG00000130429 ENSG00000130429 HGNC:704 ARPC5 gene ARPC5 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Combined immunodeficiency;HP:0005387 37349293;37382373 False 3 100;0;0 1.114 True ENSG00000162704 ENSG00000162704 HGNC:708 ATM gene ATM Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia MIM# 208900;Progressive T cell decrease, poor T-cell proliferation to mitogens;low IgA, IgE and IgG;increased IgM monomers;antibodies variably decreased;Ataxia;telangiectasia especially of sclerae;pulmonary infections;lymphoreticular and other malignancies;increased alpha fetoprotein;increased radiosensitivity, chromosomal instability and chromosomal translocations Combined immunodeficiency;HP:0005387 20301790;27884168;8689683 False 3 100;0;0 1.114 True ENSG00000149311 ENSG00000149311 HGNC:795 B2M gene B2M Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 43 MIM# 241600;Sinopulmonary infections;Purple-red skin lesions;Decreased serum IgG;Decreased B cells;Absent 2m associated proteins MHC-I, CD1a, CD1b, and CD1c;MONDO:0009434 Combined immunodeficiency;HP:0005387 4186801;16549777;25702838;11118151;6165007 False 3 100;0;0 1.114 True ENSG00000166710 ENSG00000166710 HGNC:914 BCL10 gene BCL10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 37, MIM# 616098 Combined immunodeficiency;HP:0005387 25365219;32008135;11163238;12910267 False 3 100;0;0 1.114 True ENSG00000142867 ENSG00000142867 HGNC:989 BCL11B gene BCL11B Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 49, MIM# 617237;Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092" Combined immunodeficiency;HP:0005387 29985992;27959755 False 3 100;0;0 1.114 True ENSG00000127152 ENSG00000127152 HGNC:13222 BLM gene BLM Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome MIM# 210900;Short stature, dysmorphic facies;sun-sensitive;immunoglobulin deficiency (IgA, IgG, IgM);erythema;marrow failure;leukaemia;lymphoma;chromosomal instability;predisposition to malignancies Combined immunodeficiency;HP:0005387 17407155;9285778;7585968;8079989;12242442;11101838 False 3 100;0;0 1.114 True ENSG00000197299 ENSG00000197299 HGNC:1058 CARD11 gene CARD11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 11A, autosomal recessive, MIM# 615206;Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 Combined immunodeficiency;HP:0005387 23561803;12818158;23374270;28628108 False 3 100;0;0 1.114 True ENSG00000198286 ENSG00000198286 HGNC:16393 CCBE1 gene CCBE1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510;lymphangiectasia and lymphoedema;facial abnormalities;dysmorphic features;hypoalbuminaemia;intellectual disability;hypoglobulinaemia Combined immunodeficiency;HP:0005387 19935664;19911200;19287381;25925991;27345729;21778431 False 3 100;0;0 1.114 True ENSG00000183287 ENSG00000183287 HGNC:29426 CD27 gene CD27 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2;CD27-deficiency MIM# 615122;hepatosplenomegaly;reduced CD8+ T-cell function;lymphadenopathy;hepatosplenomegaly;fever;increased susceptibility to EBV infection;aplastic anaemia Combined immunodeficiency;HP:0005387 22197273;22801960;22365582;25843314;11062504 False 3 100;0;0 1.114 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD3G gene CD3G Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 17, CD3 gamma deficient MIM# 615607;immune deficiency;autoimmunity;failure to thrive;recurrent gastrointestinal infections;recurrent respiratory infections;autoimmune haemolytic anaemia;Bronchiolitis obliterans;low CD3 complex;partial T lymphocytopenia;intractable diarrhoea. Combined immunodeficiency;HP:0005387 2872416;1635567;17277165;23590417;24910257;18482219;31921117;11160319 False 3 100;0;0 1.114 True ENSG00000160654 ENSG00000160654 HGNC:1675 CD40 gene CD40 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency with hyper-IgM, type 3, MIM# 606843" Combined immunodeficiency;HP:0005387 11675497;12915844 False 3 100;0;0 1.114 True ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM MIM# 308230;Severe opportunistic infections (recurrent), idiopathic neutropaenia;dysgammaglobulinaemia hepatitis;cholangitis;cholangiocarcinoma;autoimmune blood cytopenias;haemolytic anaemia;thrombocytopaenia;diarrhoea;peripheral neuroectodermal tumours Combined immunodeficiency;HP:0005387 7679801;7679206;8094231;9933119;15358621;15997875;7678782;7915248;15367912;7518839;16311023;9933119;12402041;7882172;33475257 False 3 100;0;0 1.114 True ENSG00000102245 ENSG00000102245 HGNC:11935 CDCA7 gene CDCA7 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910" Combined immunodeficiency;HP:0005387 26216346 False 3 100;0;0 1.114 True ENSG00000144354 ENSG00000144354 HGNC:14628 CHD7 gene CHD7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome MIM# 214800;Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370;Kallmann syndrome;hypogonadotropic hypogonadism with or without anosmia (HH);Coloboma of the eye;heart anomaly;choanal atresia;intellectual disability;genital and ear anomalies, Deafness;Delayed pubertal development;CNS malformation;Cleft lip;SCID-like features;lymphopaenia;sever T-cell deficiency;hypogammaglobulinaemia Combined immunodeficiency;HP:0005387 15300250;26551301;26538304;20186815;17334657 False 3 100;0;0 1.114 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHUK gene CHUK Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, CHUK-related Combined immunodeficiency;HP:0005387 34533979 False 3 50;50;0 1.114 True ENSG00000213341 ENSG00000213341 HGNC:1974 CIITA gene CIITA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920;varied ID;bronchiolitis;pneumonia;severe autoimmune cytopaenia;CD4 T-cell lymphopaenia;hypogammaglobulinemia;absence of antigen-induced immune response;chronic diarrhoea;recurrent respiratory infections;recurrent gastroenteritis;failure to thrive;liver/biliary tract disease Combined immunodeficiency;HP:0005387 8402893;9099848;11862382;28676232;24789686;20197681;11466404;15821736;12910265 False 3 100;0;0 1.114 True ENSG00000179583 ENSG00000179583 HGNC:7067 CTPS1 gene CTPS1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 24, MIM# 615897;Recurrent/chronic bacterial and viral infections (EBV, VZV);EBV lymphoproliferation;B-cell non-Hodgkin lymphoma Combined immunodeficiency;HP:0005387 24870241 False 3 100;0;0 1.114 True ENSG00000171793 ENSG00000171793 HGNC:2519 DCLRE1C gene DCLRE1C Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type MIM# 602450;Omenn syndrome MIM# 603554 Combined immunodeficiency;HP:0005387 15731174;19953608;15699179;12055248;34220820 False 3 100;0;0 1.114 True ENSG00000152457 ENSG00000152457 HGNC:17642 DIAPH1 gene DIAPH1 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM# 616632;Combined Immune deficiency Combined immunodeficiency;HP:0005387 PMID: 33662367 False 3 100;0;0 1.114 True ENSG00000131504 ENSG00000131504 HGNC:2876 DKC1 gene DKC1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked MIM# 305000;Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;microcephaly, immunodeficiency;aplastic anaemia;thrombocytopaenia;neurodevelopmental delay;cerebellar hypoplasia;opportunistic infections Combined immunodeficiency;HP:0005387 9590285;24914498;22664374;10700698;21931702;15842668;12400016;15240872;9663235 False 3 100;0;0 1.114 True ENSG00000130826 ENSG00000130826 HGNC:2890 DNMT3B gene DNMT3B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860;facial dysmorphic features;flat nasal bridge;developmental delay;macroglossia;bacterial/opportunistic infections (recurrent);malabsorption;cytopaenia;malignancies;multiradial configurations of chromosomes 1, 9, 16;Hypogammaglobulinaemia;agammaglobulinaemia;variable antibody deficiency;decreased immunoglobulin production;low T/B/NK cells Combined immunodeficiency;HP:0005387 20587527;10555141;17359920;9718351;10647011;11102980;12239717 False 3 100;0;0 1.114 True ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 40 MIM# 616433;T/B-cell lymphopaenia;early-onset invasive herpes/viral/bacterial Infections;function defects in T/B/NK cells;immunodeficiency;defective IFN-mediated immunity;elevated IgM;normal IgG/IgA levels Combined immunodeficiency;HP:0005387 26083206;29204803;33928462;30826364;30838481;11518968 False 3 100;0;0 1.114 True ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK8 gene DOCK8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700;T cell Lymphopaenia;decraese T/B/NK cells;Eosinophilia;low IgM;elevated IgE;recurrent cutaneous/ viral/ bacterial/ fungal/ infections;severe atopy/allergic disease;autoimmune haemolytic anaemia;eczema;cancer diathesis Combined immunodeficiency;HP:0005387 19776401;20622910;21931011;26659092;19898472;25422492 False 3 100;0;0 1.114 True ENSG00000107099 ENSG00000107099 HGNC:19191 DSG1 gene DSG1 Expert Review Green;Literature;Other Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218" Combined immunodeficiency;HP:0005387 23974871;32126589;29604126 False 3 100;0;0 1.114 True ENSG00000134760 ENSG00000134760 HGNC:3048 EPG5 gene EPG5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM# 242840 Combined immunodeficiency;HP:0005387 23222957;26917586 False 3 100;0;0 1.114 True ENSG00000152223 ENSG00000152223 HGNC:29331 ERCC6L2 gene ERCC6L2 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 2, MIM# 615715" Combined immunodeficiency;HP:0005387 24507776;27185855 False 3 0;0;0 1.114 True ENSG00000182150 ENSG00000182150 HGNC:26922 EXTL3 gene EXTL3 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425" Combined immunodeficiency;HP:0005387 28132690;28148688 False 3 100;0;0 1.114 True ENSG00000012232 ENSG00000012232 HGNC:3518 FAT4 gene FAT4 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006;Low/variable T and B cells;Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features" Combined immunodeficiency;HP:0005387 False 3 100;0;0 1.114 True ENSG00000196159 ENSG00000196159 HGNC:23109 FCHO1 gene FCHO1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 76, MIM# 619164;Combined immunodeficiency;T cells: low, poor proliferation;B cells: normal number;Recurrent infections (viral, mycobacteria, bacterial, fungal);lymphoproliferation;Failure to thrive;Increased activation-induced T-cell death;Defective clathrin-mediated endocytosis Combined immunodeficiency;HP:0005387 32098969;30822429 False 3 100;0;0 1.114 True ENSG00000130475 ENSG00000130475 HGNC:29002 FNIP1 gene FNIP1 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Combined immunodeficiency;HP:0005387 32181500;32905580 False 3 100;0;0 1.114 True ENSG00000217128 ENSG00000217128 HGNC:29418 FOXN1 gene FOXN1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705;T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806 Combined immunodeficiency;HP:0005387 31447097;18339010;10206641 False 3 100;0;0 1.114 True ENSG00000109101 ENSG00000109101 HGNC:12765 GINS1 gene GINS1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 55, MIM#617827 Combined immunodeficiency;HP:0005387 28414293 False 3 100;0;0 1.114 True ENSG00000101003 ENSG00000101003 HGNC:28980 HELLS gene HELLS Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911 Combined immunodeficiency;HP:0005387 26216346 False 3 100;0;0 1.114 True ENSG00000119969 ENSG00000119969 HGNC:4861 HTRA2 gene HTRA2 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII, MIM# 617248" Combined immunodeficiency;HP:0005387 False 3 100;0;0 1.114 True ENSG00000115317 ENSG00000115317 HGNC:14348 ICOS gene ICOS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 1 MIM# 607594;recurrent bacterial respiratory/gastrointestinal infections;autoimmunity;gastroenteritis;low IgG/IgA;normal-low IgM;hypogammaglobulinaemia;low-normal B-cells;normal T-cells;Bronchitis;Lymphadenopathy;Hepatomegaly;Diarrhoea Combined immunodeficiency;HP:0005387 12577056;15507387;19380800;28861081;31858365;11343122;16982935 False 3 100;0;0 1.114 True ENSG00000163600 ENSG00000163600 HGNC:5351 IKBKB gene IKBKB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 15A, autosomal dominant, MIM# 618204;Immunodeficiency 15B, autosomal recessive, MIM# 615592 Combined immunodeficiency;HP:0005387 30337470;25216719;24369075 False 3 100;0;0 1.114 True Other ENSG00000104365 ENSG00000104365 HGNC:5960 IKBKG gene IKBKG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia and immunodeficiency 1 MIM# 300291;Immunodeficiency 33 MIM# 300636 Combined immunodeficiency;HP:0005387 11242109;11047757;29855039;15833888;28993958;15577852 False 3 100;0;0 1.114 True ENSG00000073009 ENSG00000269335 HGNC:5961 IKZF1 gene IKZF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 13 MIM# 616873;recurrent bacterial respiratory infections;Thrombocytopaenia;immunodeficiency;Hypogammaglobulinaemia;decrease B-cells;decrease B-cell differentiation;decrease memory B/T cells;Low Ig;pneumocystis early CID onset Combined immunodeficiency;HP:0005387 21548011;26981933;29889099;31057532;7923373;11805317 False 3 100;0;0 1.114 True ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF2 gene IKZF2 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal HELIOS deficiency MONDO:0800139 Combined immunodeficiency;HP:0005387 34826260;34826259;34920454 False 3 100;0;0 1.114 True ENSG00000030419 ENSG00000030419 HGNC:13177 IKZF3 gene IKZF3 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 84, MIM# 619437" Combined immunodeficiency;HP:0005387 34155405;34694366 False 3 0;100;0 1.114 True ENSG00000161405 ENSG00000161405 HGNC:13178 IL21R gene IL21R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56, MIM# 615207 Combined immunodeficiency;HP:0005387 33929673 False 3 100;0;0 1.114 True ENSG00000103522 ENSG00000103522 HGNC:6006 IL2RG gene IL2RG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined immunodeficiency, X-linked, moderate MIM# 312863;Severe combined immunodeficiency, X-linked MIM# 300400;recurrent viral/fungal/bacterial infections;Low T/NK cells;Low Ig levels;lymphocytopaenia;hypogammaglobulinaemia;failure to thrive;diarrhoea;Pneumonia;Thymic hypoplasia Combined immunodeficiency;HP:0005387 20301584;8462096;8401490;7883965;9399950 False 3 100;0;0 1.114 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL6ST gene IL6ST Expert list;Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523;Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response;Hyper-IgE syndrome, autosomal dominant Combined immunodeficiency;HP:0005387 28747427;30309848;12370259;16041381;31914175;32207811 False 3 100;0;0 1.114 True ENSG00000134352 ENSG00000134352 HGNC:6021 IL7 gene IL7 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, IL7-related Combined immunodeficiency;HP:0005387 PMID: 39352394 False 3 100;0;0 1.114 True ENSG00000104432 ENSG00000104432 HGNC:6023 IL7R gene IL7R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency 104 MIM#608971 Combined immunodeficiency;HP:0005387 9843216;19890784;26123418;11023514;7964471 False 3 100;0;0 1.114 True ENSG00000168685 ENSG00000168685 HGNC:6024 IRF4 gene IRF4 Expert Review Green;Other Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, IRF4-related Combined immunodeficiency;HP:0005387 29408330;36662884 False 3 50;50;0 1.114 True ENSG00000137265 ENSG00000137265 HGNC:6119 ITK gene ITK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 1 MIM# 613011;Lymphadenopathy;Recurrent infections;Hypogammaglobulinaemia;Evidence of EBV infection;EBV associated B cell Lymphoproliferation;High EBV viral load;Normal-low serum Ig;Depleted CD4+ T cells;Anaemia;Thrombocytopaenia;Hepatosplenomegaly Combined immunodeficiency;HP:0005387 19425169;22289921;25061172;26056787;9311799;10213685 False 3 100;0;0 1.114 True ENSG00000113263 ENSG00000113263 HGNC:6171 ITPR3 gene ITPR3 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, ITPR3-related Combined immunodeficiency;HP:0005387 PMID: 36302985 False 3 100;0;0 1.114 True ENSG00000096433 ENSG00000096433 HGNC:6182 IVNS1ABP gene IVNS1ABP Expert Review Green;Literature Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 70, MIM#618969 Combined immunodeficiency;HP:0005387 32499645 False 3 100;0;0 1.114 True ENSG00000116679 ENSG00000116679 HGNC:16951 KDM6A gene KDM6A Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2 MIM#300867 Combined immunodeficiency;HP:0005387 31363182;32048120 False 3 100;0;0 1.114 True ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2D gene KMT2D Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1 MIM#147920 Combined immunodeficiency;HP:0005387 31363182;32048120 False 3 100;0;0 1.114 True ENSG00000167548 ENSG00000167548 HGNC:7133 LCK gene LCK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 22 MIM# 615758;Recurrent infections;Immune dysregulation;autoimmunity;Low CD4+;low CD8+;restricted T cell repertoire;poor TCR signaling;Normal IgG/IgA;high IgM;failure to thrive;diarrhoea;lymphopenia;hypogammaglobulinemia;anaemia;thrombocytopaenia;CD4+ T-cell lymphopenia Combined immunodeficiency;HP:0005387 22985903;1579166;11021796;27087313;38100037 False 3 50;50;0 1.114 True ENSG00000182866 ENSG00000182866 HGNC:6524 LCP2 gene LCP2 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 81, MIM# 619374 Combined immunodeficiency;HP:0005387 PMID: 36474126;PMID: 33231617 False 3 100;0;0 1.114 True ENSG00000043462 ENSG00000043462 HGNC:6529 LIG1 gene LIG1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Lymphopaenia;Hypogammaglobulinaemia;Recurrent bacterial and viral infections;Growth retardation;Sun sensitivity, radiation sensitivity;Macrocytosis Combined immunodeficiency;HP:0005387 30395541 False 3 100;0;0 1.114 True ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome MIM# 606593;T-/B- lymphocytopaenia;Normal NK, radiation sensitivity;Microcephaly;low B/C cells;low Ig;raised IgM;failure to thrive;bacterial/viral/fungal infections;hypogammaglobulinaemia;neurodevelopmental delay;microcephaly;pancytopaenia Combined immunodeficiency;HP:0005387 27717373;10911993 False 3 100;0;0 1.114 True ENSG00000174405 ENSG00000174405 HGNC:6601 LRBA gene LRBA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700;Normal-decreased CD4 numbers;T cell dysregulation;Low-normal B cells;Reduced IgG and IgA;Recurrent infections;chronic diarrhoea;inflammatory bowel disease;hypogammaglobulinaemia;pneumonitis;autoimmune disorders;thrombocytopaenia Combined immunodeficiency;HP:0005387 22608502;22721650;25468195;26206937;33155142 False 3 100;0;0 1.114 True ENSG00000198589 ENSG00000198589 HGNC:1742 MAGT1 gene MAGT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853;XMEN;Low CD4;inverted CD4/CD8 ratio;reduced MAIT cells;poor proliferation to CD3;decreased memory B cells;progressive hypogammaglobulinaemia;reduced NK cell;EBV infection;lymphoma;viral infections;respiratory and GI infections;Glycosylation defects Combined immunodeficiency;HP:0005387 24550228;31036665;32451662 False 3 100;0;0 1.114 True ENSG00000102158 ENSG00000102158 HGNC:28880 MALT1 gene MALT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 12 MIM# 615468;poor T-cell proliferation;normal T/B cell numbers;poor specific antibody response;recurrent bacterial/fungal/viral infections;bronchiectasis;failure to thrive Combined immunodeficiency;HP:0005387 23727036;24332264;14576442;31037583 False 3 100;0;0 1.114 True ENSG00000172175 ENSG00000172175 HGNC:6819 MAP3K14 gene MAP3K14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 112, MIM# 620449;NIK deficiency;Poor T cell proliferation to antigen;Low B-cell numbers;Low NK number and function;recurrent bacterial/viral/ cryptosporidium infections;hypogammaglobulinaemia;decreased immunoglobulin levels Combined immunodeficiency;HP:0005387 25406581;29230214;11251123;10319865;11238593;12352969 False 3 0;100;0 1.114 True ENSG00000006062 ENSG00000006062 HGNC:6853 MOGS gene MOGS Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIb, MIM# 606056;Severe hypogammaglobulinaemia;Bacterial and viral infections;Severe neurologic disease" Combined immunodeficiency;HP:0005387 10788335;24716661;29235540 False 3 100;0;0 1.114 True ENSG00000115275 ENSG00000115275 HGNC:24862 MSN gene MSN Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 50, MIM# 300988" Combined immunodeficiency;HP:0005387 27405666 False 3 100;0;0 1.114 True ENSG00000147065 ENSG00000147065 HGNC:7373 MTHFD1 gene MTHFD1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780;Decreased Ig levels;poor antibody responses to conjugated polysaccharide antigens;low B/T/NK cells;Recurrent bacterial infection;megaloblastic anaemia;failure to thrive;neutropenia;seizures;intellectual disability;folate-responsive;Lymphopaenia Combined immunodeficiency;HP:0005387 32414565;19033438 False 3 100;0;0 1.114 True ENSG00000100714 ENSG00000100714 HGNC:7432 MYSM1 gene MYSM1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, MIM#618116 Combined immunodeficiency;HP:0005387 24288411;28115216;26220525;32640305 False 3 100;0;0 1.114 True ENSG00000162601 ENSG00000162601 HGNC:29401 NBN gene NBN Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM#251260 Combined immunodeficiency;HP:0005387 False 3 100;0;0 1.114 True ENSG00000104320 ENSG00000104320 HGNC:7652 NFE2L2 gene NFE2L2 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744;Recurrent respiratory and skin infection;Growth retardation;Developmental delay, borderline ID;White matter cerebral lesions" Combined immunodeficiency;HP:0005387 29018201 False 3 100;0;0 1.114 True ENSG00000116044 ENSG00000116044 HGNC:7782 NFKB1 gene NFKB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 12 MIM# 616576;Normal-low IgG, IgA, IgM;low-normal B cells;low switched memory B cells;hypogammaglobulinaemia;recurrent respiratory and gastrointestinal infections;Chronic obstructive pulmonary disease COPD;EBV proliferation;autoimmunity;alopecia Combined immunodeficiency;HP:0005387 26279205;32278790;27022143;7834752 False 3 100;0;0 1.114 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 10 MIM# 615577;Low serum IgG, IgA, IgM;low B cell numbers;low switched memory B cells;Recurrent sinopulmonary infections, Alopecia;endocrinopathies;ACTH deficiency Combined immunodeficiency;HP:0005387 24140114;24888602;25524009;31417880 False 3 100;0;0 1.114 True ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia and immunodeficiency 2 MIM# 612132;Ectodermal dysplasia;TCR/ BCR activation impaired;low memory and isotype switched B cells;decreased IgG and IgA;elevated IgM;poor specific antibody responses;diarrhoea;agammaglobulinaemia;ectodermal dysplasia;recurrent respiratory and gastrointestinal infections;colitis;variable defects of skin, hair and teeth Combined immunodeficiency;HP:0005387 28597146;23864385;23708964 False 3 100;0;0 1.114 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100906 ENSG00000100906 HGNC:7797 NHP2 gene NHP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2 MIM# 613987;Shortened telomeres;Leukoplakia;Nail dystrophy;Bone marrow failure;Pancytopaenia;reticulate skin pigmentation;Thrombocytopaenia;recurrent opportunistic infections Combined immunodeficiency;HP:0005387 20301779;18523010;31985013 False 3 50;50;0 1.114 True ENSG00000145912 ENSG00000145912 HGNC:14377 ORAI1 gene ORAI1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9, MIM# 612782 Combined immunodeficiency;HP:0005387 31448844 False 3 100;0;0 1.114 True ENSG00000182500 ENSG00000276045 HGNC:25896 PARN gene PARN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Combined immunodeficiency;HP:0005387 25893599;26342108;25848748;32452087 False 3 100;0;0 1.114 True ENSG00000140694 ENSG00000140694 HGNC:8609 PGM3 gene PGM3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, MIM# 615816;PGM3-CDG, MONDO:0014353 Combined immunodeficiency;HP:0005387 30578875;31231132;33098103;30157810;28704707 False 3 100;0;0 1.114 True ENSG00000013375 ENSG00000013375 HGNC:8907 PNP gene PNP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179;Autoimmune hemolytic anaemia;neurological impairment;SCID;CID;hypouricaemia;failure to thrive;chronic diarrhoea;recurrent respiratory/ gastrointestinal infections;normal-low Ig levels;spastic paresis;tremor;ataxia;DD Combined immunodeficiency;HP:0005387 22132981;9122228;10859343 False 3 100;0;0 1.114 True ENSG00000198805 ENSG00000198805 HGNC:7892 POLA1 gene POLA1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked reticulate pigmentary disorder MONDO:0010523 Combined immunodeficiency;HP:0005387 27019227 False 3 100;0;0 1.114 True ENSG00000101868 ENSG00000101868 HGNC:9173 POLD1 gene POLD1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 120, MIM# 620836;Low CD4 T cells;Low B cells, normal maturation;recurrent respiratory tract infections, skin infections, warts and molluscum;short stature;intellectual disability Combined immunodeficiency;HP:0005387 31629014;31449058 False 3 100;0;0 1.114 True ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal FILS syndrome, MIM# 615139;IMAGE-I syndrome, MIM# 618336 Combined immunodeficiency;HP:0005387 30503519;23230001;25948378 False 3 100;0;0 1.114 True ENSG00000177084 ENSG00000177084 HGNC:9177 PRIM1 gene PRIM1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276 Combined immunodeficiency;HP:0005387 33060134;38773012 False 3 100;0;0 1.114 True ENSG00000198056 ENSG00000198056 HGNC:9369 PTCRA gene PTCRA Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 126, MIM# 620931 Combined immunodeficiency;HP:0005387 38422122 False 3 100;0;0 1.114 True ENSG00000171611 ENSG00000171611 HGNC:21290 RAC2 gene RAC2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203;Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987;Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986 Combined immunodeficiency;HP:0005387 21167572;10758162;10072071;25512081;32542921;31919089 False 3 100;0;0 1.114 True Other ENSG00000128340 ENSG00000128340 HGNC:9802 RAD50 gene RAD50 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, MIM# 613078;Hypogammaglobulinaemia Combined immunodeficiency;HP:0005387 PMID: 37794136 False 3 100;0;0 1.114 True ENSG00000113522 ENSG00000113522 HGNC:9816 RAG1 gene RAG1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889;Combined cellular and humoral immune defects with granulomas MIM# 233650;Omenn syndrome MIM# 603554;Severe combined immunodeficiency, B cell-negative MIM# 601457 Combined immunodeficiency;HP:0005387 16276422;18463379;20489056;9630231;11313270;17476359;8810255;6823332 False 3 100;0;0 1.114 True ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Omenn syndrome MIM# 603554;Severe combined immunodeficiency, B cell-negative MIM# 601457;Combined cellular and humoral immune defects with granulomas MIM# 233650 Combined immunodeficiency;HP:0005387 9630231;11313270;31885011;8810255;15025726;18463379 False 3 100;0;0 1.114 True ENSG00000175097 ENSG00000175097 HGNC:9832 RBCK1 gene RBCK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895;muscular weakness;cardiomyopathy;recurrent bacterial/viral infections;autoinflammation;immunodeficiency;Poor antibody responses to polysaccharides;failure to thrive;fever;pneumonia Combined immunodeficiency;HP:0005387 29260357;29695863 False 3 100;0;0 1.114 True ENSG00000125826 ENSG00000125826 HGNC:15864 RECQL4 gene RECQL4 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome MONDO:0010002 Combined immunodeficiency;HP:0005387 21143835;26064716 False 3 100;0;0 1.114 True ENSG00000160957 ENSG00000160957 HGNC:9949 RELA gene RELA Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mucocutaneous ulceration, chronic, MIM# 618287;Impaired NFkB activation;reduced production of inflammatory cytokines;autoimmune cytopaenias" Combined immunodeficiency;HP:0005387 28600438;29305315;37273177 False 3 100;0;0 1.114 True ENSG00000173039 ENSG00000173039 HGNC:9955 RELB gene RELB Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 53, MIM# 617585;T cells: normal number, poor diversity, poor function;recurrent infections" Combined immunodeficiency;HP:0005387 7834753;26385063;39231201;36402602 False 3 33;67;0 1.114 True ENSG00000104856 ENSG00000104856 HGNC:9956 RFX5 gene RFX5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group C MIM# 209920;Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 Combined immunodeficiency;HP:0005387 9401005;29527204;30170160;7990905;8642248;7699327 False 3 100;0;0 1.114 True ENSG00000143390 ENSG00000143390 HGNC:9986 RFXANK gene RFXANK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal MHC class II deficiency, complementation group B MIM# 209920;Bare Lymphocyte Syndrome, type II, complementation group B;Low CD4+ T cells;reduced MHC II expression on lymphocytes;Normal-low Ig levels;Failure to thrive;respiratory/gastrointestinal infections;liver/biliary tract disease;diarrhoea;Severe autoimmune cytopaenia;agammaglobulinaemia Combined immunodeficiency;HP:0005387 12618906 False 3 100;0;0 1.114 True ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group D MIM# 209920;Low CD4+ T cells;reduced MHC II expression on lymphocytes;Normal-low Ig levels;Failure to thrive;respiratory/gastrointestinal infections;liver/biliary tract disease;diarrhoea;Severe autoimmune cytopaenia;agammaglobulinaemia Combined immunodeficiency;HP:0005387 9118943;32875002;11258423 False 3 100;0;0 1.114 True ENSG00000133111 ENSG00000133111 HGNC:9988 RMRP gene RMRP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Cartilage hair hypoplasia (CHH) MIM#250250;shortened limbs;short stature;metaphysical dysplasia;fine, sparse and/or light-coloured hair;hematologic abnormalities;CID;impaired lymphocyte proliferation;low Ig levels;antibodies variably decreased;bone marrow failure;autoimmunity;susceptibility to lymphoma and other cancers;impaired spermatogenesis;neuronal dysplasia of the intestine Combined immunodeficiency;HP:0005387 16244706;21396580;22420014 False 3 100;0;0 1.114 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNF168 gene RNF168 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal RIDDLE syndrome MIM# 611943;Radiosensitivity;Immune Deficiency;Dysmorphic Features;Learning difficulties;Low IgG or IgA;Short stature;mild defect of motor control to ataxia;normal intelligence to learning difficulties;mild facial dysmorphism to microcephaly Combined immunodeficiency;HP:0005387 19203578;21394101;29255463;21552324 False 3 100;0;0 1.114 True ENSG00000163961 ENSG00000163961 HGNC:26661 RNU4ATAC gene RNU4ATAC Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome MIM#226960;Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710;Roifman syndrome MIM#616651 Combined immunodeficiency;HP:0005387 32048120;26522830;29265708 False 3 100;0;0 1.114 True ENSG00000264229 ENSG00000264229 HGNC:34016 RTEL1 gene RTEL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 4 MIM# 615190;Dyskeratosis congenita, autosomal recessive 5 MIM# 615190;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373 Combined immunodeficiency;HP:0005387 20301779;23329068;15210109;23453664;19461895;25848748;25607374 False 3 100;0;0 1.114 True ENSG00000258366 ENSG00000258366 HGNC:15888 SASH3 gene SASH3 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 102, MIM# 301082 Combined immunodeficiency;HP:0005387 33876203 False 3 100;0;0 1.114 True ENSG00000122122 ENSG00000122122 HGNC:15975 SGPL1 gene SGPL1 Expert Review;Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Sphingosine Phosphate Lyase Insufficiency Syndrome;RENI syndrome (MIM#617575) Combined immunodeficiency;HP:0005387 33074640 False 3 100;0;0 1.114 True ENSG00000166224 ENSG00000166224 HGNC:10817 SKIV2L gene SKIV2L Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Trichohepatoenteric syndrome 2, MIM# 614602;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair;Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities" Combined immunodeficiency;HP:0005387 22444670 False 3 100;0;0 1.114 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC46A1 gene SLC46A1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary MIM# 229050;Decreased Ig levels;megaloblastic anaemia;failure to thrive;Immunodeficiency;if untreated for prolonged periods results in intellectual disability;oral mucositis;hypoimmunoglobulinaemia;recurrent infections;seizures;motor impairment;leukopaenia;thrombocytopaenia Combined immunodeficiency;HP:0005387 20301716 False 3 100;0;0 1.114 True ENSG00000076351 ENSG00000076351 HGNC:30521 SMARCAL1 gene SMARCAL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Schimke immune-osseous dysplasia MIM# 242900;T cell deficiency;Short stature;spondyloepiphyseal dysplasia;renal dysfunction;lymphocytopaenia;nephropathy;bacterial/viral/fungal infections;may present as SCID;bone marrow failure Combined immunodeficiency;HP:0005387 20301550;17089404;20036229 False 3 100;0;0 1.114 True ENSG00000138375 ENSG00000138375 HGNC:11102 SP110 gene SP110 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hepatic veno-occlusive disease with immunodeficiency MIM#235550;Hepatic veno-occlusive disease;susceptibility to Pneumocystis jirovecii pneumonia;cytomegalovirus;thrombocytopaenia;hepatosplenomegaly;cerebrospinal leukodystrophy;memory T/B cell deficiency;low Ig levels;absent tissue plasma cells;absent lymph node germinal centers;hypogammaglobulinaemia Combined immunodeficiency;HP:0005387 20301448;31721003 False 3 100;0;0 1.114 True ENSG00000135899 ENSG00000135899 HGNC:5401 SPINK5 gene SPINK5 Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Netherton syndrome MIM# 256500;Low switched and non-switched B cells;High IgE and IgA;Antibody variably decreased;Congenital ichthyosis;bamboo hair;atopic diathesis;increased bacterial infections;failure to thrive;food allergies Combined immunodeficiency;HP:0005387 33534181;20657595 False 3 100;0;0 1.114 True ENSG00000133710 ENSG00000133710 HGNC:15464 STAT3 gene STAT3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE recurrent infection syndrome MIM# 147060;Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Combined immunodeficiency;HP:0005387 17881745;14566054;25349174;25038750;25359994 False 3 100;0;0 1.114 True Other ENSG00000168610 ENSG00000168610 HGNC:11364 STAT5B gene STAT5B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity with immunodeficiency, MIM# 245590 Combined immunodeficiency;HP:0005387 29844444 False 3 100;0;0 1.114 True Other ENSG00000173757 ENSG00000173757 HGNC:11367 STAT6 gene STAT6 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hyper-IgE syndrome MONDO:0018037 Combined immunodeficiency;HP:0005387 36884218;36758835 False 3 100;0;0 1.114 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166888 ENSG00000166888 HGNC:11368 STIM1 gene STIM1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10, MIM# 612783 Combined immunodeficiency;HP:0005387 31448844 False 3 100;0;0 1.114 True ENSG00000167323 ENSG00000167323 HGNC:11386 STK4 gene STK4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868;CD4/CD8 lymphopaenia;cardiac malformations;reduced na ve T cells;increased TEM and TEMRA cells;poor T cell Proliferation;Reduced memory B cells;Reduced IgM, increased IgG, IgA, IgE;impaired antibody responses;intermittent neutropaenia;bacterial/ viral/ fungal infections;autoimmune cytopaenias;mucocutaneous candidiasis;cutaneous warts Combined immunodeficiency;HP:0005387 22294732;26117625;22174160;22952854 False 3 100;0;0 1.114 True ENSG00000101109 ENSG00000101109 HGNC:11408 TAP1 gene TAP1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I MIM#604571;Low CD8;absent MHC I on lymphocytes;vasculitis;pyoderma gangrenosum;skin lesions;recurrent respiratory tract infections;bronchiectasis Combined immunodeficiency;HP:0005387 28161407;10074494;1473153 False 3 100;0;0 1.114 True ENSG00000168394 ENSG00000168394 HGNC:43 TAP2 gene TAP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "MHC class I deficiency 2, MIM# 620813;Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571;Low CD8;absent MHC I on lymphocytes;Vasculitis;pyoderma gangrenosum;recurrent bacterial/viral respiratory infections;bronchiectasis" Combined immunodeficiency;HP:0005387 7517574;9232449;10560675;27861817 False 3 100;0;0 1.114 True ENSG00000204267 ENSG00000204267 HGNC:44 TBCE gene TBCE Expert Review Green;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Combined immunodeficiency;HP:0005387 PMID: 36258138 False 3 100;0;0 1.114 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBX1 gene TBX1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DiGeorge syndrome MIM# 188400;Velocardiofacial syndrome MIM# 192430;Decreased T cells;Hypoparathyroidism;Conotruncal cardiac malformation;velopalatal insufficiency;abnormal facies (cleft palate, prominent tubular nose etc);intellectual disability;Immunodeficiency;thymic hypoplasia or aplasia with resultant T cell dysfunction;renal anomalies;autoimmunity Combined immunodeficiency;HP:0005387 20301696;31830774;16684884 False 3 100;0;0 1.114 True ENSG00000184058 ENSG00000184058 HGNC:11592 TCN2 gene TCN2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency MIM# 275350;Decreased Ig levels;Megaloblastic anaemia;pancytopaenia;if untreated (B12) for prolonged periods results in intellectual disability;failure to thrive;diarrhoea;hypogammaglobulinaemia;pallor;hypotonia;respiratory infection Combined immunodeficiency;HP:0005387 32841161;33023511;30124850 False 3 100;0;0 1.114 True ENSG00000185339 ENSG00000185339 HGNC:11653 TGFBR1 gene TGFBR1 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1 MIM#609192 Combined immunodeficiency;HP:0005387 24333532;23884466;32048120 False 3 100;0;0 1.114 True Other ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2 MIM#610168 Combined immunodeficiency;HP:0005387 24333532;23884466;32048120 False 3 100;0;0 1.114 True Other ENSG00000163513 ENSG00000163513 HGNC:11773 TLR8 gene TLR8 Expert Review Green;Literature Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Combined immunodeficiency;HP:0005387 33512449 False 3 100;0;0 1.114 True Other ENSG00000101916 ENSG00000101916 HGNC:15632 TTC37 gene TTC37 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Trichohepatoenteric syndrome 1, MIM# 222470;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair:Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities" Combined immunodeficiency;HP:0005387 21120949;20176027 False 3 100;0;0 1.114 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150 Combined immunodeficiency;HP:0005387 30553809;28936210 False 3 100;0;0 1.114 True ENSG00000068724 ENSG00000068724 HGNC:19750 WAS gene WAS Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neutropaenia, severe congenital, X-linked MIM# 300299;Wiskott-Aldrich syndrome MIM# 301000;Thrombocytopaenia, X-linked MIM# 313900 Combined immunodeficiency;HP:0005387 11242115;19006568;16804117;8069912;10575547;7579329;7795648;23807894 False 3 100;0;0 1.114 True Other ENSG00000015285 ENSG00000015285 HGNC:12731 WIPF1 gene WIPF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2 MIM# 614493;Reduced T cells;defective lymphocyte responses to anti-CD3;high IgE;Thrombocytopenia with or without small platelets;recurrent bacterial and viral Infections;eczema;bloody diarrhoea;gastrointestinal bleeding;WAS protein absent Combined immunodeficiency;HP:0005387 22231303;27742395;11869681;14757742 False 3 100;0;0 1.114 True ENSG00000115935 ENSG00000115935 HGNC:12736 ZAP70 gene ZAP70 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 48, MIM# 269840;Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006 Combined immunodeficiency;HP:0005387 8124727;8202712;11412303;26783323;33628209;33531381 False 3 100;0;0 1.114 True Other ENSG00000115085 ENSG00000115085 HGNC:12858 ZBTB24 gene ZBTB24 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069;Facial dysmorphic features;developmental delay;macroglossia;bacterial/opportunistic infections;malabsorption;cytopaenia;malignancies;multiradial configurations of chromosomes 1, 9, 16;Hypogammaglobulinaemia or agammaglobulinaemia;variable antibody deficiency Combined immunodeficiency;HP:0005387 21596365;21906047;27626380;32061411 False 3 100;0;0 1.114 True ENSG00000112365 ENSG00000112365 HGNC:21143 ZNF341 gene ZNF341 Expert list;Expert Review Green Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282;Mild facial dysmorphism;Early onset eczema;Recurrent bacterial skin infections, abscesses;Recurrent respiratory infections, lung abscesses and pneumothoraces;Hyperextensible joints, bone fractures, retention of primary teeth" Combined immunodeficiency;HP:0005387 29907691;29907690 False 3 100;0;0 1.114 True ENSG00000131061 ENSG00000131061 HGNC:15992 CD28 gene CD28 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Combined immunodeficiency;HP:0005387 34214472 False 2 0;100;0 1.114 True ENSG00000178562 ENSG00000178562 HGNC:1653 CD8A gene CD8A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal CD8 deficiency, familial, MIM# 608957 Combined immunodeficiency;HP:0005387 11435463;17658607;26563160 False 2 0;100;0 1.114 True ENSG00000153563 ENSG00000153563 HGNC:1706 COPG1 gene COPG1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 128, MIM# 620983 Combined immunodeficiency;HP:0005387 PMID: 33529166 False 2 0;50;50 1.114 True ENSG00000181789 ENSG00000181789 HGNC:2236 ERBIN gene ERBIN Expert list;Expert Review Amber Combined Immunodeficiency 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 Combined immunodeficiency;HP:0005387 28126831 False 2 0;100;0 1.114 True ENSG00000112851 ENSG00000112851 HGNC:15842 FLT3LG gene FLT3LG Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 125 MIM#620926 Combined immunodeficiency;HP:0005387 10828034;38701783 False 2 0;100;0 1.114 True ENSG00000090554 ENSG00000090554 HGNC:3766 FOXI3 gene FOXI3 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted thymic dysplasia MONDO:0004195 Combined immunodeficiency;HP:0005387 35987349;31600545 False 2 0;100;0 1.114 True ENSG00000214336 ENSG00000214336 HGNC:35123 GUK1 gene GUK1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Combined immunodeficiency;HP:0005387 39230499 False 2 0;100;0 1.114 True ENSG00000143774 ENSG00000143774 HGNC:4693 ICOSLG gene ICOSLG Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 119, MIM# 620825;Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia Combined immunodeficiency;HP:0005387 31532372;30498080 False 2 0;100;0 1.114 True ENSG00000160223 ENSG00000160223 HGNC:17087 IL6R gene IL6R Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recurrent pyogenic infections, cold abscesses;High circulating IL-6 levels;High IgE;IgE recurrent infection syndrome, MIM#618944 Combined immunodeficiency;HP:0005387 31235509 False 2 0;100;0 1.114 True ENSG00000160712 ENSG00000160712 HGNC:6019 KMT2A gene KMT2A Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome MIM#605130 Combined immunodeficiency;HP:0005387 32048120;28623346;27320412 False 2 0;100;0 1.114 True ENSG00000118058 ENSG00000118058 HGNC:7132 LCP1 gene LCP1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related Combined immunodeficiency;HP:0005387 PMID: 38710235 False 2 0;100;0 1.114 True Other ENSG00000136167 ENSG00000136167 HGNC:6528 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related;Combined Immune deficiency Combined immunodeficiency;HP:0005387 38622837;35637269;31775018 False 2 0;33;67 1.114 True ENSG00000013288 ENSG00000013288 HGNC:29623 MCM10 gene MCM10 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000065328 ENSG00000065328 HGNC:18043 MCM4 gene MCM4 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency 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 Combined immunodeficiency;HP:0005387 22354167;22354170;22499342 False 2 0;100;0 1.114 True ENSG00000104738 ENSG00000104738 HGNC:6947 NFATC1 gene NFATC1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, NFATC1-related;Combined Immune deficiency Combined immunodeficiency;HP:0005387 PMID: 37249233 False 2 0;100;0 1.114 True ENSG00000131196 ENSG00000131196 HGNC:7775 NSMCE3 gene NSMCE3 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Combined immunodeficiency;HP:0005387 27427983 False 2 0;100;0 1.114 True ENSG00000185115 ENSG00000185115 HGNC:7677 PI4KA gene PI4KA Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Combined immunodeficiency;HP:0005387 34415310 False 2 0;100;0 1.114 True ENSG00000241973 ENSG00000241973 HGNC:8983 PMS2 gene PMS2 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, MIM# 276300 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000122512 ENSG00000122512 HGNC:9122 POLD2 gene POLD2 Expert list;Expert Review Amber Combined Immunodeficiency 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 Combined immunodeficiency;HP:0005387 31449058;36528861 False 2 0;50;50 1.114 True ENSG00000106628 ENSG00000106628 HGNC:9176 POLD3 gene POLD3 Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 122, MIM# 620869 Combined immunodeficiency;HP:0005387 38099988;37030525 False 2 0;100;0 1.114 True ENSG00000077514 ENSG00000077514 HGNC:20932 REL gene REL Expert list;Expert Review Amber Combined Immunodeficiency 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 Combined immunodeficiency;HP:0005387 31103457;34623332 False 2 50;50;0 1.114 True ENSG00000162924 ENSG00000162924 HGNC:9954 RHOH gene RHOH Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Combined immunodeficiency;HP:0005387 22850876;27574848;38775840 False 2 0;50;50 1.114 True ENSG00000168421 ENSG00000168421 HGNC:686 RNF31 gene RNF31 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 Combined immunodeficiency;HP:0005387 26008899;30936877 False 2 0;100;0 1.114 True ENSG00000092098 ENSG00000092098 HGNC:16031 SLC19A1 gene SLC19A1 Expert Review Amber;Literature Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, SLC19A1-related MONDO:0015131 Combined immunodeficiency;HP:0005387 36517554,36745868 False 2 0;100;0 1.114 True ENSG00000173638 ENSG00000173638 HGNC:10937 TAPBP gene TAPBP Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, MIM# 604571;MHC class I deficiency 3, MIM# 620814 Combined immunodeficiency;HP:0005387 38866210;12149238 False 2 0;50;50 1.114 True ENSG00000231925 ENSG00000231925 HGNC:11566 TERC gene TERC Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989;{Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000164362 ENSG00000164362 HGNC:11730 TFRC gene TFRC Expert list;Expert Review Amber Combined Immunodeficiency 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" Combined immunodeficiency;HP:0005387 26642240 False 2 0;100;0 1.114 True ENSG00000072274 ENSG00000072274 HGNC:11763 TINF2 gene TINF2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Combined Immunodeficiency Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, MIM# 613990;Revesz syndrome, MIM# 268130 Combined immunodeficiency;HP:0005387 False 2 0;100;0 1.114 True ENSG00000092330 ENSG00000092330 HGNC:11824 TRAC gene TRAC Expert list;Expert Review Amber Combined Immunodeficiency Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Combined immunodeficiency;HP:0005387 21206088 False 2 50;50;0 1.114 True ENSG00000229164 ENSG00000277734 HGNC:12029