Autoinflammatory Disorders (Version 3.0)

Description

This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:
- Defects affecting the inflammasome
- Non-inflammasome related conditions
- Type 1 Interferonopathies

Updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.

This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).

Panel Activity

22 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Rylee Peters (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Chern Lim (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Peter McNaughton (Queensland Children's Hospital)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

108 Entities

108 reviewed, 86 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 108 Entitiess
Green Green List (high evidence)	ACP5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 Short stature SLE, thrombocytopenia and autoimmune haemolytic anaemia Possibly recurrent bacterial and viral infections Tags
Green Green List (high evidence)	ADA2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags
Green Green List (high evidence)	ADAM17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections Tags
Green Green List (high evidence)	ADAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ALPK1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Tags
Green Green List (high evidence)	ARF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related Tags
Green Green List (high evidence)	ARPC5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Tags
Green Green List (high evidence)	ATAD3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations inborn error of immunity MONDO:0003778 Harel-Yoon syndrome MONDO:0014958 Tags
Green Green List (high evidence)	C2orf69	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	CARD14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Psoriasis 2, MIM# 602723 Tags
Green Green List (high evidence)	CDC42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neonatal-onset cytopaenia with dyshaematopoiesis autoinflammation rash HLH Tags
Green Green List (high evidence)	COPA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune interstitial lung, joint, and kidney disease, MIM 616414 Tags
Green Green List (high evidence)	CTLA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Tags
Green Green List (high evidence)	CTLA4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	DNASE1L3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Systemic lupus erythematosus 16, MIM# 614420 Tags
Green Green List (high evidence)	DNASE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Autoinflammatory-pancytopaenia syndrome, MIM# 619858 Tags
Green Green List (high evidence)	DPP9	4 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Disease associations Autoinflammatory syndrome MONDO:0019751, DPP9-related recurrent fevers repeated infections herpes susceptibility cytopaenias Tags
Green Green List (high evidence)	ELANE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropenia, cyclic MIM#162800 Tags
Green Green List (high evidence)	FDFT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations porokeratosis MONDO:0006602, FDFT1-related Tags somatic
Green Green List (high evidence)	FDPS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations porokeratosis 9, multiple types MONDO:0014713 Tags
Green Green List (high evidence)	HAVCR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Tags
Green Green List (high evidence)	IFIH1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Aicardi-Goutieres syndrome 7, MIM# 615846 Tags
Green Green List (high evidence)	IKBKG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Autoinflammatory disease, systemic, X-linked, MIM# 301081 Tags
Green Green List (high evidence)	IL1RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Interleukin 1 receptor antagonist deficiency, MIM# 612852 Tags
Green Green List (high evidence)	IL36RN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Psoriasis 14, pustular, MIM# 614204 Autoinflammatory syndrome, MONDO:0019751, IL36RN-related Tags
Green Green List (high evidence)	IRAK4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, IRAK4-related Tags
Green Green List (high evidence)	JAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Green Green List (high evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Majeed syndrome, MIM# 609628 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia Tags
Green Green List (high evidence)	LYN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations Autoinflammatory disease, systemic, with vasculitis MONDO:0957271 Tags
Green Green List (high evidence)	MEFV	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Familial Mediterranean fever, AD, MIM# 134610 Familial Mediterranean fever, AR, MIM# 249100 Neutrophilic dermatosis, MIM#608068 Tags
Green Green List (high evidence)	MVD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Porokeratosis 7, multiple types, MIM# 614714 Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR Tags
Green Green List (high evidence)	MVK	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hyper-IgD syndrome (MIM#260920) Mevalonic aciduria (MIM#610377) porokeratosis 3, disseminated superficial actinic type MONDO:0008293 Tags
Green Green List (high evidence)	NCKAP1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Disease associations immunodeficiency 72 with autoinflammation MONDO:0033551 Tags
Green Green List (high evidence)	NLRC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Familial cold autoinflammatory syndrome 4 - MIM#616115 Autoinflammation with infantile enterocolitis - MIM#616050 Tags
Green Green List (high evidence)	NLRP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Autoinflammation with arthritis and dyskeratosis, MIM# 617388 Palmoplantar carcinoma, multiple self-healing 615225 Recurrent respiratory papillomatosis Tags
Green Green List (high evidence)	NLRP12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Familial cold autoinflammatory syndrome 2 - MIM#611762 Tags
Green Green List (high evidence)	NLRP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Familial cold inflammatory syndrome 1, MIM# 120100 Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772 CINCA syndrome, MIM#12032915 607115 Tags
Green Green List (high evidence)	NOD2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Blau syndrome, MIM# 186580 {Inflammatory bowel disease 1, Crohn disease} 266600 {Yao syndrome} 617321 Tags
Green Green List (high evidence)	OAS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags
Green Green List (high evidence)	OAS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409 Tags
Green Green List (high evidence)	OSMR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, OSMR-related Tags
Green Green List (high evidence)	OTULIN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099 Tags
Green Green List (high evidence)	PIK3CG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 97 with autoinflammation, MIM# 619802 Immune dysregulation HLH-like childhood-onset antibody defects cytopenias T lymphocytic pneumonitis and colitis Tags
Green Green List (high evidence)	PLCG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Tags
Green Green List (high evidence)	PLD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Systemic lupus erythematosus 18, MIM# 621369 Tags
Green Green List (high evidence)	PMVK	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, PMVK-related Tags
Green Green List (high evidence)	POLA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220 Tags deep intronic
Green Green List (high evidence)	POMP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations proteasome-associated autoinflammatory syndrome 2 MONDO:0054700 Tags
Green Green List (high evidence)	PSMB10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 Tags
Green Green List (high evidence)	PSMB8	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698 Tags
Green Green List (high evidence)	PSMB9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 Proteasome-associated autoinflammatory syndrome 6, MIM# 620796 Tags
Green Green List (high evidence)	PSMD12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Stankiewicz-Isidor syndrome MONDO:0054591 Tags
Green Green List (high evidence)	PSTPIP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Tags
Green Green List (high evidence)	PTCRA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 126, MIM# 620931 Tags
Green Green List (high evidence)	PTPN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related Tags
Green Green List (high evidence)	PTPN2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related Tags
Green Green List (high evidence)	RBCK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Tags
Green Green List (high evidence)	RELA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Mucocutaneous ulceration, chronic, MIM# 618287 periodic fever, inflammatory bowel disease, JIA Tags
Green Green List (high evidence)	RIGI	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Lupus Nephritis, MONDO:0005556, DDX58-related Tags
Green Green List (high evidence)	RIPK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations autoinflammation with episodic fever and lymphadenopathy MONDO:0030018 Tags
Green Green List (high evidence)	RNASEH2A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNF31	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Green Green List (high evidence)	RNU7-1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Aicardi-Goutieres syndrome 9 (MIM#619487) Tags non-coding gene
Green Green List (high evidence)	SAMHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SAT1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Systemic lupus erythematosus, MONDO:0007915, SAT1-related Tags
Green Green List (high evidence)	SERPINA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 Tags
Green Green List (high evidence)	SH3BP2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Cherubism, MIM# 118400 Tags
Green Green List (high evidence)	SHARPIN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammation with episodic fever and immune dysregulation, MIM# 620795 Tags
Green Green List (high evidence)	SLC29A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Tags
Green Green List (high evidence)	STAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory disorder Tags
Green Green List (high evidence)	STAT4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Disabling pansclerotic morphea of childhood MIM#620443 Tags
Green Green List (high evidence)	STING1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations STING-associated vasculopathy, infantile-onset, MIM# 615934 Tags
Green Green List (high evidence)	STXBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, STXBP3-related Tags
Green Green List (high evidence)	SYK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations immunodeficiency 82 with systemic inflammation MONDO:0030308 Tags
Green Green List (high evidence)	TBK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammation with arthritis and vasculitis, MIM# 620880 Tags
Green Green List (high evidence)	TLR8	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome MONDO:0019751, TLR8-associated Tags
Green Green List (high evidence)	TNFAIP3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744 Tags
Green Green List (high evidence)	TNFRSF1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Periodic fever, familial, MIM# 142680 Tags
Green Green List (high evidence)	TREX1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations {Systemic lupus erythematosus, susceptibility to} 152700 Aicardi-Goutieres syndrome 1, dominant and recessive 225750 Tags
Green Green List (high evidence)	TRNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green Green List (high evidence)	UBA1	1 review 1 green	Other	Sources Expert Review Green Literature Disease associations Autoinflammatory disease, adult onset VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054 Tags somatic
Green Green List (high evidence)	USP18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Pseudo-TORCH syndrome 2, MIM# 617397 Tags
Green Green List (high evidence)	WDR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Tags
Green Green List (high evidence)	ZNFX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 91 and hyperinflammation, MIM# 619644 Tags
Amber Amber List (moderate evidence)	AP1S3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {Psoriasis 15, pustular, susceptibility to} 616106 Tags
Amber Amber List (moderate evidence)	CD274	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235 Tags
Amber Amber List (moderate evidence)	CEBPE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 108 with autoinflammation , MIM# 260570 Tags
Amber Amber List (moderate evidence)	HCK	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Tags
Amber Amber List (moderate evidence)	PSMA3	1 review	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 Tags
Amber Amber List (moderate evidence)	PSMB4	1 review	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Tags
Amber Amber List (moderate evidence)	RC3H1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Relapsing HLH Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998 Tags
Amber Amber List (moderate evidence)	REXO2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related Tags
Amber Amber List (moderate evidence)	SCGN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations ulcerative colitis, MONDO:0005101 Tags
Amber Amber List (moderate evidence)	TOM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Immunodeficiency 85 and autoimmunity MIM#619510 Tags
Red Red List (low evidence)	AP1M2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778 Tags
Red Red List (low evidence)	FBXW11	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Autoinflammatory disorder MONDO:0019751, FBXW11-related Tags
Red Red List (low evidence)	IL1R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Chronic recurrent multifocal osteomyelitis 3, MIM# 259680 Tags
Red Red List (low evidence)	IL6ST	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750 Tags
Red Red List (low evidence)	IRAK2	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Immune dysregulation, MONDO:0957790, IRAK2-related Tags
Red Red List (low evidence)	LSM11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Aicardi-Goutieres syndrome MONDO:0018866 Tags
Red Red List (low evidence)	PSMA5	1 review 1 red	Other	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, PSMA5-related PRAAS/CANDLE Tags
Red Red List (low evidence)	PSMG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Proteasome-associated autoinflammatory syndrome 4, MIM# 619183 CANDLE syndrome Chronic atypical neutrophilic dermatitis with lipodystrophy Tags
Red Red List (low evidence)	QSER1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, QSER1-related Tags
Red Red List (low evidence)	SIRT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations autoimmune disease, MONDO:0007179, SIRT1-related Tags
Red Red List (low evidence)	SKAP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778 Tags
Red Red List (low evidence)	ZNF334	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Familial cold autoinflammatory syndrome, MONDO:0018768, ZNF334-related Tags

Autoinflammatory Disorders (Version 3.0)

22 reviewers

108 Entities

108 reviewed, 86 green

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