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 Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944;Short stature;SLE, thrombocytopenia and autoimmune haemolytic anaemia;Possibly recurrent bacterial and viral infections" 26951490;21217755;26789720;26346816 False 3 100;0;0 2.3 True ENSG00000102575 ENSG00000102575 HGNC:124 ADA2 gene ADA2 Expert Review Green;Literature;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 24552284;24552285 False 3 100;0;0 2.3 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADAM17 gene ADAM17 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328;Recurrent infections 22010916;29560122;26683521;25804906 False 3 100;0;0 2.3 True ENSG00000151694 ENSG00000151694 HGNC:195 ADAR gene ADAR Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 6, MIM# 615010" False 3 100;0;0 2.3 True ENSG00000160710 ENSG00000160710 HGNC:225 ALPK1 gene ALPK1 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979;Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome 31053777;35868845 False 3 50;50;0 2.3 True ENSG00000073331 ENSG00000073331 HGNC:20917 ARPC5 gene ARPC5 Expert list;Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 37349293;37382373 False 3 100;0;0 2.3 True ENSG00000162704 ENSG00000162704 HGNC:708 ATAD3A gene ATAD3A Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal inborn error of immunity MONDO:0003778;Harel-Yoon syndrome MONDO:0014958 34387651 False 3 100;0;0 2.3 True ENSG00000197785 ENSG00000197785 HGNC:25567 C2orf69 gene C2orf69 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 34038740;33945503 False 3 100;0;0 2.3 True ENSG00000178074 ENSG00000178074 HGNC:26799 CARD14 gene CARD14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Psoriasis 2, MIM# 602723 34118208;31286971;30783801 False 3 100;0;0 2.3 True ENSG00000141527 ENSG00000141527 HGNC:16446 CDC42 gene CDC42 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal-onset cytopaenia with dyshaematopoiesis;autoinflammation;rash;HLH 31601675;32303876;32231661 False 3 100;0;0 2.3 True ENSG00000070831 ENSG00000070831 HGNC:1736 COPA gene COPA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune interstitial lung, joint, and kidney disease, MIM 616414 31455335;30804679 False 3 100;0;0 2.3 True ENSG00000122218 ENSG00000122218 HGNC:2230 DDX58 gene DDX58 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lupus Nephritis, MONDO:0005556, DDX58-related PMID: 36261300 False 3 100;0;0 2.3 True ENSG00000107201 ENSG00000107201 HGNC:19102 DNASE1L3 gene DNASE1L3 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Systemic lupus erythematosus 16, MIM# 614420" 22019780;30008451 False 3 100;0;0 2.3 True ENSG00000163687 ENSG00000163687 HGNC:2959 DNASE2 gene DNASE2 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopaenia syndrome, MIM# 619858 29259162;31775019 False 3 100;0;0 2.3 True ENSG00000105612 ENSG00000105612 HGNC:2960 DPP9 gene DPP9 Expert Review;Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammatory syndrome MONDO:0019751, DPP9-related;recurrent fevers;repeated infections;herpes susceptibility;cytopaenias PMID: 36112693 False 3 100;0;0 2.3 True ENSG00000142002 ENSG00000142002 HGNC:18648 ELANE gene ELANE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, cyclic MIM#162800 33968054;3124897 False 3 100;0;0 2.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197561 ENSG00000197561 HGNC:3309 HAVCR2 gene HAVCR2 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398" 30374066;30792187 False 3 100;0;0 2.3 True ENSG00000135077 ENSG00000135077 HGNC:18437 IFIH1 gene IFIH1 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aicardi-Goutieres syndrome 7, MIM# 615846" False 3 100;0;0 2.3 True ENSG00000115267 ENSG00000115267 HGNC:18873 IKBKG gene IKBKG Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Autoinflammatory disease, systemic, X-linked, MIM# 301081" 31874111;35289316 False 3 100;0;0 2.3 True ENSG00000073009 ENSG00000269335 HGNC:5961 IL1RN gene IL1RN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, MIM# 612852 19494218;32819369 False 3 100;0;0 2.3 True ENSG00000136689 ENSG00000136689 HGNC:6000 IL36RN gene IL36RN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Psoriasis 14, pustular, MIM# 614204;Autoinflammatory syndrome, MONDO:0019751, IL36RN-related 21848462;21839423;22903787 False 3 100;0;0 2.3 True ENSG00000136695 ENSG00000136695 HGNC:15561 IRAK4 gene IRAK4 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, IRAK4-related PMID: 37744344 False 3 100;0;0 2.3 True ENSG00000198001 ENSG00000198001 HGNC:17967 JAK1 gene JAK1 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 38563820;28111307 False 3 100;0;0 2.3 True ENSG00000162434 ENSG00000162434 HGNC:6190 LPIN2 gene LPIN2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, MIM# 609628;Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia 15994876;33993107;33670882;33314777;31727123 False 3 100;0;0 2.3 True ENSG00000101577 ENSG00000101577 HGNC:14450 LYN gene LYN Expert list;Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory disease, systemic, with vasculitis MONDO:0957271 36932076;36122175 False 3 100;0;0 2.3 False Other ENSG00000254087 ENSG00000254087 HGNC:6735 MEFV gene MEFV Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever, AD, MIM# 134610;Familial Mediterranean fever, AR, MIM# 249100;Neutrophilic dermatosis, MIM#608068 27030597;28835462 False 3 100;0;0 2.3 True ENSG00000103313 ENSG00000103313 HGNC:6998 MVK gene MVK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome (MIM#260920);Mevalonic aciduria (MIM#610377) 29047407;26409462 False 3 100;0;0 2.3 True ENSG00000110921 ENSG00000110921 HGNC:7530 NCKAP1L gene NCKAP1L Expert list;Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "immunodeficiency 72 with autoinflammation MONDO:0033551" 32647003 False 3 100;0;0 2.3 False ENSG00000123338 ENSG00000123338 HGNC:4862 NLRC4 gene NLRC4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold autoinflammatory syndrome 4 - MIM#616115;Autoinflammation with infantile enterocolitis - MIM#616050 25217959;25385754;25217960 False 3 100;0;0 2.3 True ENSG00000091106 ENSG00000091106 HGNC:16412 NLRP1 gene NLRP1 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Autoinflammation with arthritis and dyskeratosis, MIM# 617388;Palmoplantar carcinoma, multiple self-healing 615225;Recurrent respiratory papillomatosis" 27965258;31484767;27662089 False 3 100;0;0 2.3 True Other ENSG00000091592 ENSG00000091592 HGNC:14374 NLRP12 gene NLRP12 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold autoinflammatory syndrome 2 - MIM#611762 18230725;21360512;24064030;27633793 False 3 100;0;0 2.3 True ENSG00000142405 ENSG00000142405 HGNC:22938 NLRP3 gene NLRP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold inflammatory syndrome 1, MIM# 120100;Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772;CINCA syndrome, MIM#12032915 607115 12032915;12483741;28847925;11687797 False 3 100;0;0 2.3 True ENSG00000162711 ENSG00000162711 HGNC:16400 NOD2 gene NOD2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blau syndrome, MIM# 186580 15459013 False 3 100;0;0 2.3 True ENSG00000167207 ENSG00000167207 HGNC:5331 OAS1 gene OAS1 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 34145065 False 3 100;0;0 2.3 True ENSG00000089127 ENSG00000089127 HGNC:8086 OTULIN gene OTULIN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030;Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099 27523608;27559085;38630025;38652464;38129331 False 3 100;0;0 2.3 True ENSG00000154124 ENSG00000154124 HGNC:25118 PIK3CG gene PIK3CG Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 97 with autoinflammation, MIM# 619802;Immune dysregulation;HLH-like;childhood-onset antibody defects;cytopenias;T lymphocytic pneumonitis and colitis 32001535;31554793 False 3 100;0;0 2.3 True ENSG00000105851 ENSG00000105851 HGNC:8978 PLCG2 gene PLCG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 31853824;32671674;22236196 False 3 100;0;0 2.3 True ENSG00000197943 ENSG00000197943 HGNC:9066 POLA1 gene POLA1 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220" 27019227 False 3 100;0;0 2.3 True ENSG00000101868 ENSG00000101868 HGNC:9173 POMP gene POMP Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted proteasome-associated autoinflammatory syndrome 2 MONDO:0054700 29805043 False 3 100;0;0 2.3 False ENSG00000132963 ENSG00000132963 HGNC:20330 PSMB10 gene PSMB10 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 31783057;37600812 False 3 50;0;50 2.3 True ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB8 gene PSMB8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1, MIM# 256040;MONDO:0054698 21129723;21881205;21852578;21953331 False 3 100;0;0 2.3 True ENSG00000204264 ENSG00000204264 HGNC:9545 PSMB9 gene PSMB9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591;Proteasome-associated autoinflammatory syndrome 6, MIM# 620796 26524591;34819510 False 3 50;50;0 2.3 True Other ENSG00000240065 ENSG00000240065 HGNC:9546 PSMD12 gene PSMD12 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Stankiewicz-Isidor syndrome MONDO:0054591" 39641441;35080150;34906456 False 3 100;0;0 2.3 False ENSG00000197170 ENSG00000197170 HGNC:9557 PSTPIP1 gene PSTPIP1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979;Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416;PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome 11971877;34938582;34778321;34745107;34492165;34047005 False 3 100;0;0 2.3 True ENSG00000140368 ENSG00000140368 HGNC:9580 PTCRA gene PTCRA Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 126, MIM# 620931 38422122 False 3 100;0;0 2.3 True ENSG00000171611 ENSG00000171611 HGNC:21290 RBCK1 gene RBCK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders 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 29260357;29695863 False 3 100;0;0 2.3 True ENSG00000125826 ENSG00000125826 HGNC:15864 RELA gene RELA Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mucocutaneous ulceration, chronic, MIM# 618287;periodic fever, inflammatory bowel disease, JIA PMID: 37273177 False 3 100;0;0 2.3 True ENSG00000173039 ENSG00000173039 HGNC:9955 RIPK1 gene RIPK1 Expert list;Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoinflammation with episodic fever and lymphadenopathy MONDO:0030018 31827280;31827281 False 3 100;0;0 2.3 True Other ENSG00000137275 ENSG00000137275 HGNC:10019 RNASEH2A gene RNASEH2A Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 4, MIM# 610333" False 3 100;0;0 2.3 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 2, MIM# 610181" False 3 100;0;0 2.3 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 3, MIM# 610329" False 3 100;0;0 2.3 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNU7-1 gene RNU7-1 Expert Review Green;Other Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9 (MIM#619487) 33230297;35748970 False 3 100;0;0 2.3 True ENSG00000238923 ENSG00000238923 HGNC:34033 SAMHD1 gene SAMHD1 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 5, MIM# 612952" False 3 100;0;0 2.3 True ENSG00000101347 ENSG00000101347 HGNC:15925 SAT1 gene SAT1 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Systemic lupus erythematosus, MONDO:0007915, SAT1-related 25977808 False 3 50;50;0 2.3 True ENSG00000130066 ENSG00000130066 HGNC:10540 SERPINA1 gene SERPINA1 Expert Review;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490" 33516773 False 3 100;0;0 2.3 True ENSG00000197249 ENSG00000197249 HGNC:8941 SH3BP2 gene SH3BP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism, MIM# 118400 26152156;25705883;25470448;25220465;20301316 False 3 50;0;50 2.3 True Other ENSG00000087266 ENSG00000087266 HGNC:10825 SHARPIN gene SHARPIN Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation with episodic fever and immune dysregulation, MIM# 620795 PMID: 38609546 False 3 100;0;0 2.3 True ENSG00000179526 ENSG00000179526 HGNC:25321 SLC29A3 gene SLC29A3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 18940313;19336477;22238637 False 3 100;0;0 2.3 True ENSG00000198246 ENSG00000198246 HGNC:23096 STAT2 gene STAT2 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory disorder 31836668;32092142 False 3 100;0;0 2.3 True ENSG00000170581 ENSG00000170581 HGNC:11363 STAT4 gene STAT4 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disabling pansclerotic morphea of childhood MIM#620443 PMID: 37256972 False 3 100;0;0 2.3 True Other ENSG00000138378 ENSG00000138378 HGNC:11365 STXBP3 gene STXBP3 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Bilateral Sensorineural Hearing Loss;Immune Dysregulation 33891011 False 3 100;0;0 2.3 True ENSG00000116266 ENSG00000116266 HGNC:11446 SYK gene SYK Expert list;Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "immunodeficiency 82 with systemic inflammation MONDO:0030308" 33782605 False 3 100;0;0 2.3 False Other ENSG00000165025 ENSG00000165025 HGNC:11491 TBK1 gene TBK1 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation with arthritis and vasculitis, MIM# 620880 PMID: 34363755 False 3 100;0;0 2.3 True ENSG00000183735 ENSG00000183735 HGNC:11584 TLR8 gene TLR8 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoinflammatory syndrome MONDO:0019751, TLR8-associated 34981838;33512449 False 3 50;0;50 2.3 True ENSG00000101916 ENSG00000101916 HGNC:15632 TMEM173 gene TMEM173 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "STING-associated vasculopathy, infantile-onset, MIM# 615934" 25401470;25029335;32673614;36275728 False 3 100;0;0 2.3 True Other ENSG00000184584 ENSG00000184584 HGNC:27962 TNFAIP3 gene TNFAIP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744 26642243 False 3 100;0;0 2.3 True ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF1A gene TNFRSF1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, familial, MIM# 142680 10199409 False 3 100;0;0 2.3 True ENSG00000067182 ENSG00000067182 HGNC:11916 TREX1 gene TREX1 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "{Systemic lupus erythematosus, susceptibility to} 152700;Aicardi-Goutieres syndrome 1, dominant and recessive 225750" False 3 100;0;0 2.3 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRNT1 gene TRNT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 25193871;23553769;29170023;27389523 False 3 100;0;0 2.3 True ENSG00000072756 ENSG00000072756 HGNC:17341 UBA1 gene UBA1 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders Other Autoinflammatory disease, adult onset;VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054 33108101 False 3 100;0;0 2.3 True ENSG00000130985 ENSG00000130985 HGNC:12469 USP18 gene USP18 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Pseudo-TORCH syndrome 2, MIM# 617397" 31940699;27325888 False 3 100;0;0 2.3 True ENSG00000184979 ENSG00000184979 HGNC:12616 WDR1 gene WDR1 Expert list;Expert Review Green Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 27557945;29751004;27994071 False 3 100;0;0 2.3 True ENSG00000071127 ENSG00000071127 HGNC:12754 ZNFX1 gene ZNFX1 Expert Review Green;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, MIM# 619644 33872655 False 3 100;0;0 2.3 True ENSG00000124201 ENSG00000124201 HGNC:29271 AP1S3 gene AP1S3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Psoriasis 15, pustular, susceptibility to} 616106 24791904;27388993 False 2 0;100;0 2.3 True ENSG00000152056 ENSG00000152056 HGNC:18971 CEBPE gene CEBPE Expert Review Amber;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 108 with autoinflammation , MIM# 260570" PMID: 31201888 False 2 0;100;0 2.3 True Other ENSG00000092067 ENSG00000092067 HGNC:1836 HCK gene HCK Expert Review Amber;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 PMID: 34536415 False 2 0;100;0 2.3 True Other ENSG00000101336 ENSG00000101336 HGNC:4840 PMVK gene PMVK Expert Review Amber;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, PMVK-related PMID: 37364720;36410683 False 2 0;100;0 2.3 False ENSG00000163344 ENSG00000163344 HGNC:9141 PSMA3 gene PSMA3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders Other Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 26524591 False 2 0;100;0 2.3 True ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB4 gene PSMB4 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Autoinflammatory Disorders Immunological disorders Other Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 26524591 False 2 0;100;0 2.3 True ENSG00000159377 ENSG00000159377 HGNC:9541 PTPN2 gene PTPN2 Expert Review Amber;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lupus;arthritis;common variable immunodeficiency 32499645;27658548 False 2 0;100;0 2.3 True ENSG00000175354 ENSG00000175354 HGNC:9650 RC3H1 gene RC3H1 Expert Review Amber;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Relapsing HLH;Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998" 31636267 False 2 0;100;0 2.3 True ENSG00000135870 ENSG00000135870 HGNC:29434 REXO2 gene REXO2 Expert Review Amber;Literature Autoinflammatory Disorders Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related PMID: 39107301 False 2 0;100;0 2.3 True Other ENSG00000076043 ENSG00000076043 HGNC:17851 RNF31 gene RNF31 Expert Review;Expert Review Amber Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 26008899;30936877 False 2 0;100;0 2.3 True ENSG00000092098 ENSG00000092098 HGNC:16031 SCGN gene SCGN Expert Review Amber;Literature Autoinflammatory Disorders Immunological disorders BIALLELIC, autosomal or pseudoautosomal ulcerative colitis, MONDO:0005101 31663849 False 2 0;100;0 2.3 True ENSG00000079689 ENSG00000079689 HGNC:16941