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 ACP5 gene ACP5 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000102575 ENSG00000102575 HGNC:124 ADA2 gene ADA2 Expert Review Green;Literature;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAR gene ADAR Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000160710 ENSG00000160710 HGNC:225 AIRE gene AIRE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 True ENSG00000160224 ENSG00000160224 HGNC:360 AP3B1 gene AP3B1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000132842 ENSG00000132842 HGNC:566 AP3D1 gene AP3D1 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Hermansky-Pudlak syndrome 10, MIM# 617050;Oculocutaneous albinism;Severe neutropaenia;Recurrent infections;Seizures;Hearing loss;Neurodevelopmental delay" Immune dysregulation;HP:0002958 26744459;9697856;30472485 False 3 50;0;50 1.5 True ENSG00000065000 ENSG00000065000 HGNC:568 ARPC5 gene ARPC5 Expert list;Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 133 with autoimmunity and autoinflammation MIM#620565" Immune dysregulation;HP:0002958 37382373;37349293 False 3 100;0;0 1.5 True ENSG00000162704 ENSG00000162704 HGNC:708 BACH2 gene BACH2 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 60, MIM# 618394;inflammatory bowel disease;recurrent sinopulmonary infections" Immune dysregulation;HP:0002958 28530713 False 3 100;0;0 1.5 True ENSG00000112182 ENSG00000112182 HGNC:14078 BLOC1S6 gene BLOC1S6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 9, MIM# 614171 Immune dysregulation;HP:0002958 32245340;33543539;29054114;26575419;22461475;10610180 False 3 50;50;0 1.5 True ENSG00000104164 ENSG00000104164 HGNC:8549 CARMIL2 gene CARMIL2 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 58, MIM# 618131" Immune dysregulation;HP:0002958 29479355;28112205;27896283 False 3 100;0;0 1.5 True ENSG00000159753 ENSG00000159753 HGNC:27089 CASP10 gene CASP10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type II MIM#603909 Immune dysregulation;HP:0002958 34329798;34384744;20301287 False 3 100;0;0 1.5 True ENSG00000003400 ENSG00000003400 HGNC:1500 CBLB gene CBLB Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 Immune dysregulation;HP:0002958 36006710 False 3 100;0;0 1.5 True ENSG00000114423 ENSG00000114423 HGNC:1542 CD27 gene CD27 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 2, MIM# 615122" Immune dysregulation;HP:0002958 22801960;22197273 False 3 100;0;0 1.5 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD70 gene CD70 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 3, MIM# 618261" Immune dysregulation;HP:0002958 28011864;28011863 False 3 100;0;0 1.5 True ENSG00000125726 ENSG00000125726 HGNC:11937 COL4A3BP gene COL4A3BP Expert Review Green;Literature;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder 34 (MIM#616351) Immune dysregulation;HP:0002958 PMID: 36976648 False 3 100;0;0 1.5 True Other ENSG00000113163 ENSG00000113163 HGNC:2205 CTLA4 gene CTLA4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Immune dysregulation;HP:0002958 25213377;25329329;30377434 False 3 100;0;0 1.5 True ENSG00000163599 ENSG00000163599 HGNC:2505 CTPS1 gene CTPS1 Expert list;Expert Review Green Disorders of immune dysregulation 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" Immune dysregulation;HP:0002958 24870241 False 3 100;0;0 1.5 True ENSG00000171793 ENSG00000171793 HGNC:2519 DEF6 gene DEF6 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 87 and autoimmunity, MIM# 619573;Systemic autoimmunity Immune dysregulation;HP:0002958 31308374;32562707 False 3 100;0;0 1.5 True ENSG00000023892 ENSG00000023892 HGNC:2760 DOCK11 gene DOCK11 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Immune dysregulation;HP:0002958 36952639 False 3 100;0;0 1.5 True ENSG00000147251 ENSG00000147251 HGNC:23483 DPP9 gene DPP9 Expert Review;Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal hatipoglu immunodeficiency syndrome MONDO:0957229 Immune dysregulation;HP:0002958 36112693 False 3 100;0;0 1.5 True ENSG00000142002 ENSG00000142002 HGNC:18648 ELF4 gene ELF4 Expert Review Green;Other Disorders of immune dysregulation Immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Immune dysregulation;HP:0002958 34326534, 35266071;35748970 False 3 100;0;0 1.5 True ENSG00000102034 ENSG00000102034 HGNC:3319 FADD gene FADD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal FADD-related immunodeficiency MONDO:0013408 Immune dysregulation;HP:0002958 21109225;25794656;32350755;32971525 False 3 100;0;0 1.5 True ENSG00000168040 ENSG00000168040 HGNC:3573 FAS gene FAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal autoimmune lymphoproliferative syndrome MONDO:0017979 Immune dysregulation;HP:0002958 16627752;17605793;19794494;8787672;22857792;33356695;26334989;25451160 False 3 100;0;0 1.5 True ENSG00000117560 ENSG00000117560 HGNC:11936 FERMT1 gene FERMT1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Kindler syndrome MONDO:0008260 Immune dysregulation;HP:0002958 34512655 False 3 100;0;0 1.5 True ENSG00000101311 ENSG00000101311 HGNC:15889 FOXP3 gene FOXP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000049768 ENSG00000049768 HGNC:6106 GATA2 gene GATA2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Immune dysregulation;HP:0002958 26395816;27169477;29493060;30564229;31350183;33410496;33684095;34040617 False 3 100;0;0 1.5 True ENSG00000179348 ENSG00000179348 HGNC:4171 GIMAP5 gene GIMAP5 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal portal hypertension, noncirrhotic, 2 MONDO:0030397 Immune dysregulation;HP:0002958 33956074 False 3 100;0;0 1.5 True ENSG00000196329 ENSG00000196329 HGNC:18005 GIMAP6 gene GIMAP6 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome MONDO:0019751, GIMAP6-related Immune dysregulation;HP:0002958 PMID: 35551368;33328581 False 3 100;0;0 1.5 True ENSG00000133561 ENSG00000133561 HGNC:21918 HAVCR2 gene HAVCR2 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Immune dysregulation;HP:0002958 30792187;30374066 False 3 100;0;0 1.5 True ENSG00000135077 ENSG00000135077 HGNC:18437 IFIH1 gene IFIH1 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000115267 ENSG00000115267 HGNC:18873 IKZF1 gene IKZF1 Expert Review Green;Literature;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation Immune dysregulation;HP:0002958 PMID: 35333544 False 3 100;0;0 1.5 True Other ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF2 gene IKZF2 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency, MONDO:0021094, IKZF2-related;Immune dysregulation Immune dysregulation;HP:0002958 34920454;34826259 False 3 100;0;0 1.5 True ENSG00000030419 ENSG00000030419 HGNC:13177 IL10 gene IL10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL2RA gene IL2RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495;Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections" Immune dysregulation;HP:0002958 31040184;31040185 False 3 100;0;0 1.5 True ENSG00000100385 ENSG00000100385 HGNC:6009 IPO8 gene IPO8 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472;Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities Immune dysregulation;HP:0002958 34010604 False 3 100;0;0 1.5 True ENSG00000133704 ENSG00000133704 HGNC:9853 ITCH gene ITCH Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITK gene ITK Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 1, MIM# 613011;EBV associated B call lymphoproliferation, lymphoma" Immune dysregulation;HP:0002958 19425169;22289921;21109689 False 3 100;0;0 1.5 True ENSG00000113263 ENSG00000113263 HGNC:6171 JAK1 gene JAK1 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Eosinophilia;Eosinophilic enteritis;Thyroid disease;Poor growth;Viral infections;Viral infections;Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Immune dysregulation;HP:0002958 28111307 False 3 100;0;0 1.5 True Other ENSG00000162434 ENSG00000162434 HGNC:6190 LACC1 gene LACC1 Expert list;Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal juvenile arthritis due to defect in LACC1 MONDO:0032920 Immune dysregulation;HP:0002958 25220867;27881174;30872671;33718577 False 3 100;0;0 1.5 True ENSG00000179630 ENSG00000179630 HGNC:26789 LIG4 gene LIG4 Expert Review Green;Literature;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "LIG4 syndrome, MIM# 606593;Immune dysregulation" Immune dysregulation;HP:0002958 PMID: 37004747 False 3 100;0;0 1.5 True Other ENSG00000174405 ENSG00000174405 HGNC:6601 LRBA gene LRBA Expert list;Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700;Recurrent infections;Inflammatory bowel disease;Autoimmunity;EBV infections" Immune dysregulation;HP:0002958 22721650;25468195;26206937;22608502 False 3 100;0;0 1.5 True ENSG00000198589 ENSG00000198589 HGNC:1742 LYN gene LYN Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Immune dysregulation;HP:0002958 36932076;36122175 False 3 100;0;0 1.5 True ENSG00000254087 ENSG00000254087 HGNC:6735 LYST gene LYST Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAGT1 gene MAGT1 Expert list;Expert Review Green Disorders of immune dysregulation 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" Immune dysregulation;HP:0002958 31036665;25504528;21796205;24550228;25956530 False 3 100;0;0 1.5 True ENSG00000102158 ENSG00000102158 HGNC:28880 NBAS gene NBAS Expert Review Green;Literature;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 Immune dysregulation;HP:0002958 35902954 False 3 100;0;0 1.5 True ENSG00000151779 ENSG00000151779 HGNC:15625 NBEAL2 gene NBEAL2 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gray platelet syndrome, MIM# 139090;Immune dysregulation Immune dysregulation;HP:0002958 PMID: 37349339 False 3 100;0;0 1.5 True ENSG00000160796 ENSG00000160796 HGNC:31928 NCKAP1L gene NCKAP1L Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency;Immune dysregulation;Immunodeficiency 72 with autoinflammation, MIM# 618982 Immune dysregulation;HP:0002958 32647003 False 3 100;0;0 1.5 True ENSG00000123338 ENSG00000123338 HGNC:4862 PEPD gene PEPD Expert list;Expert Review Green;NHS GMS Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, MIM#170100 Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 True ENSG00000124299 ENSG00000124299 HGNC:8840 POMP gene POMP Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined immunodeficiency;Autoinflammation Immune dysregulation;HP:0002958 29805043 False 3 100;0;0 1.5 True ENSG00000132963 ENSG00000132963 HGNC:20330 PRF1 gene PRF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRKCD gene PRKCD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III, MIM# 615559;CVID 9 Immune dysregulation;HP:0002958 23319571;23666743;23430113;11976687;33047643;29867916 False 3 100;0;0 1.5 True ENSG00000163932 ENSG00000163932 HGNC:9399 RAB27A gene RAB27A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2, MIM# 607624 Immune dysregulation;HP:0002958 10835631;10704277;19030707;15163896;12058346;10859366 False 3 100;0;0 1.5 True ENSG00000069974 ENSG00000069974 HGNC:9766 RASGRP1 gene RASGRP1 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 64, MIM#618534 Immune dysregulation;HP:0002958 29155103;28822832;17675473;27776107;29282224 False 3 100;0;0 1.5 True ENSG00000172575 ENSG00000172575 HGNC:9878 RHBDF2 gene RHBDF2 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Pneumonia;Colitis;Immunodeficiency Immune dysregulation;HP:0002958 34937930 False 3 100;0;0 1.5 True ENSG00000129667 ENSG00000129667 HGNC:20788 RIPK1 gene RIPK1 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 57, MIM#618108 Immune dysregulation;HP:0002958 30026316;30591564;31213653;31827280 False 3 100;0;0 1.5 True ENSG00000137275 ENSG00000137275 HGNC:10019 RNASEH2A gene RNASEH2A Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000101347 ENSG00000101347 HGNC:15925 SASH3 gene SASH3 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 102, MIM# 301082 Immune dysregulation;HP:0002958 33876203 False 3 100;0;0 1.5 True ENSG00000122122 ENSG00000122122 HGNC:15975 SH2B3 gene SH2B3 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Predisposition to haematological malignancies;Myeloproliferation and multi-organ autoimmunity;juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Immune dysregulation;HP:0002958 PMID: 37206266 False 3 100;0;0 1.5 True ENSG00000111252 ENSG00000111252 HGNC:29605 SH2D1A gene SH2D1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000183918 ENSG00000183918 HGNC:10820 SLC7A7 gene SLC7A7 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lysinuric protein intolerance, MIM# 222700;Hyper-inflammatory response of macrophages;Normal NK cell function;Lysinuric protein intolerance;Bleeding tendency;Alverolar proteinosis" Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 True ENSG00000155465 ENSG00000155465 HGNC:11065 SOCS1 gene SOCS1 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375;Early-onset autoimmunity Immune dysregulation;HP:0002958 33087723;35976468 False 3 100;0;0 1.5 True ENSG00000185338 ENSG00000185338 HGNC:19383 STAT3 gene STAT3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952;Lymphoproliferation;solid organ autoimmunity;recurrent infections;short stature;eczema;delayed puberty;dental abnormalities;autoimmune interstitial lung disease;juvenile-onset arthritis;primary hypothyroidism Immune dysregulation;HP:0002958 25349174;25038750;25359994;16783372 False 3 100;0;0 1.5 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 STAT6 gene STAT6 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532 Immune dysregulation;HP:0002958 PMID: 36216080;36758835 False 3 100;0;0 1.5 True Other ENSG00000166888 ENSG00000166888 HGNC:11368 STX11 gene STX11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552 Immune dysregulation;HP:0002958 15703195;16278825;16582076;24459464 False 3 100;0;0 1.5 True ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000076944 ENSG00000076944 HGNC:11445 SYK gene SYK Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381 Immune dysregulation;HP:0002958 33782605 False 3 100;0;0 1.5 True Other ENSG00000165025 ENSG00000165025 HGNC:11491 TET2 gene TET2 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immune dysregulation;Lymphoma;Immunodeficiency-75 (IMD75), MIM#619126 Immune dysregulation;HP:0002958 32518946 False 3 100;0;0 1.5 True ENSG00000168769 ENSG00000168769 HGNC:25941 TLR7 gene TLR7 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Systemic lupus erythematosus 17, MIM# 301080" Immune dysregulation;HP:0002958 35477763 False 3 100;0;0 1.5 True ENSG00000196664 ENSG00000196664 HGNC:15631 TMEM173 gene TMEM173 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000184584 ENSG00000184584 HGNC:27962 TNFRSF9 gene TNFRSF9 Expert list;Expert Review Green Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 109 with lymphoproliferation, MIM# 620282;EBV lymphoproliferation;B-cell lymphoma;Chronic active EBV infection Immune dysregulation;HP:0002958 30872117 False 3 100;0;0 1.5 True ENSG00000049249 ENSG00000049249 HGNC:11924 TPP2 gene TPP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Immune dysregulation;HP:0002958 25525876;25414442;33586135;18362329 False 3 100;0;0 1.5 True ENSG00000134900 ENSG00000134900 HGNC:12016 TRAF3 gene TRAF3 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, TRAF3-related, MONDO:0019751;hypergammaglobulinemia;lymphadenopathy;splenomegaly, Sj gren s syndrome Immune dysregulation;HP:0002958 PMID: 35960817 False 3 100;0;0 1.5 True ENSG00000131323 ENSG00000131323 HGNC:12033 TREX1 gene TREX1 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders Unknown Immune dysregulation;HP:0002958 False 3 100;0;0 1.5 False ENSG00000213689 ENSG00000213689 HGNC:12269 UNC13D gene UNC13D Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Immune dysregulation;HP:0002958 14622600;16825436;17993578 False 3 100;0;0 1.5 True ENSG00000092929 ENSG00000092929 HGNC:23147 UNC93B1 gene UNC93B1 Expert Review Green;Literature Disorders of immune dysregulation Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related Immune dysregulation;HP:0002958 PMID: 38869500 False 3 67;0;33 1.5 True Other ENSG00000110057 ENSG00000110057 HGNC:13481 XIAP gene XIAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Immune dysregulation;HP:0002958 22228567;25943627 False 3 100;0;0 1.5 True ENSG00000101966 ENSG00000101966 HGNC:592 ZAP70 gene ZAP70 Expert list;Expert Review Green;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Immune dysregulation;HP:0002958 26783323;32431715;32048120 False 3 100;0;0 1.5 True ENSG00000115085 ENSG00000115085 HGNC:12858 CASP8 gene CASP8 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Immune dysregulation;HP:0002958 12353035;25814141;12654726;17213198;16148088 False 2 0;50;50 1.5 True ENSG00000064012 ENSG00000064012 HGNC:1509 CD274 gene CD274 Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 Immune dysregulation;HP:0002958 PMID: 38634869 False 2 0;100;0 1.5 True ENSG00000120217 ENSG00000120217 HGNC:17635 DOCK2 gene DOCK2 Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic hemophagocytic lymphohistiocytosis MONDO:0015541 Immune dysregulation;HP:0002958 PMID: 36836791 False 2 50;50;0 1.5 True ENSG00000134516 ENSG00000134516 HGNC:2988 FGL2 gene FGL2 Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, FGL2-related Immune dysregulation;HP:0002958 PMID: 36243222 False 2 0;50;50 1.5 True ENSG00000127951 ENSG00000127951 HGNC:3696 GATA3 gene GATA3 Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immune dysregulation;Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Immune dysregulation;HP:0002958 PMID: 31238969 False 2 0;100;0 1.5 True Other ENSG00000107485 ENSG00000107485 HGNC:4172 IL27RA gene IL27RA Expert list;Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Immune dysregulation;HP:0002958 38509369 False 2 0;100;0 1.5 True ENSG00000104998 ENSG00000104998 HGNC:17290 ITGAV gene ITGAV Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, ITGAV-related Immune dysregulation;HP:0002958 39526957 False 2 0;100;0 1.5 True ENSG00000138448 ENSG00000138448 HGNC:6150 MADD gene MADD Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal HLH, enteropathy Immune dysregulation;HP:0002958 PMID: 36206192 False 2 50;50;0 1.5 True ENSG00000110514 ENSG00000110514 HGNC:6766 NFAT5 gene NFAT5 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune deficiency disease, MONDO:0003778, NFAT5-related;Recurrent infections;Autoimmune enterocolopathy;EBV susceptibility;HLH Immune dysregulation;HP:0002958 25667416;36238298 False 2 0;50;50 1.5 True ENSG00000102908 ENSG00000102908 HGNC:7774 NFATC2 gene NFATC2 Expert list;Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Immune dysregulation;HP:0002958 35789258;38427060 False 2 0;33;67 1.5 True ENSG00000101096 ENSG00000101096 HGNC:7776 P2RY8 gene P2RY8 Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Systemic lupus erythematosus, MONDO:0007915, P2RY8-related Immune dysregulation;HP:0002958 34889940 False 2 50;50;0 1.5 True ENSG00000182162 ENSG00000182162 HGNC:15524 PLCG1 gene PLCG1 Expert Review;Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Immune dysregulation;HP:0002958 PMID: 37422272 False 2 0;100;0 1.5 True Other ENSG00000124181 ENSG00000124181 HGNC:9065 RHOG gene RHOG Expert Review Amber;Literature Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal Genetic HLH, MONDO:0015541, RHOG-related Immune dysregulation;HP:0002958 PMID: 33513601 False 2 0;50;50 1.5 True ENSG00000177105 ENSG00000177105 HGNC:672 TGFB1 gene TGFB1 Expert list;Expert Review Amber Disorders of immune dysregulation Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213" Immune dysregulation;HP:0002958 29483653 False 2 0;100;0 1.5 True ENSG00000105329 ENSG00000105329 HGNC:11766