Autoinflammatory Disorders (Version 2.3)

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

19 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)
Peter McNaughton (Queensland Children's Hospital)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Crystle Lee (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

92 Entities

92 reviewed, 73 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 92 Entitiess
Green Green List (high evidence)	ACP5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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)	ARPC5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Autoimmune interstitial lung, joint, and kidney disease, MIM 616414 Tags
Green Green List (high evidence)	DDX58	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lupus Nephritis, MONDO:0005556, DDX58-related Tags
Green Green List (high evidence)	DNASE1L3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Neutropenia, cyclic MIM#162800 Tags
Green Green List (high evidence)	HAVCR2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Familial Mediterranean fever, AD, MIM# 134610 Familial Mediterranean fever, AR, MIM# 249100 Neutrophilic dermatosis, MIM#608068 Tags
Green Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgD syndrome (MIM#260920) Mevalonic aciduria (MIM#610377) Tags
Green Green List (high evidence)	NCKAP1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Autoinflammation with arthritis and dyskeratosis, MIM# 617388 Palmoplantar carcinoma, multiple self-healing 615225 Recurrent respiratory papillomatosis Tags
Green Green List (high evidence)	NLRP12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Blau syndrome, MIM# 186580 Tags
Green Green List (high evidence)	OAS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 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 Phenotypes 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 Phenotypes 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 Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 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 Phenotypes 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 Phenotypes 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 Phenotypes Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 Tags
Green Green List (high evidence)	PSMB8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Immunodeficiency 126, MIM# 620931 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 Phenotypes 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 Phenotypes Mucocutaneous ulceration, chronic, MIM# 618287 periodic fever, inflammatory bowel disease, JIA Tags
Green Green List (high evidence)	RIPK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNU7-1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Aicardi-Goutieres syndrome 9 (MIM#619487) Tags
Green Green List (high evidence)	SAMHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Cherubism, MIM# 118400 Tags
Green Green List (high evidence)	SHARPIN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Autoinflammatory disorder Tags
Green Green List (high evidence)	STAT4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Disabling pansclerotic morphea of childhood MIM#620443 Tags
Green Green List (high evidence)	STXBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Very Early Onset Inflammatory Bowel Disease Bilateral Sensorineural Hearing Loss Immune Dysregulation Tags
Green Green List (high evidence)	SYK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Autoinflammatory syndrome MONDO:0019751, TLR8-associated Tags
Green Green List (high evidence)	TMEM173	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes STING-associated vasculopathy, infantile-onset, MIM# 615934 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 Phenotypes 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 Phenotypes 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 Phenotypes {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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes {Psoriasis 15, pustular, susceptibility to} 616106 Tags
Amber Amber List (moderate evidence)	CEBPE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 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 Phenotypes Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Tags
Amber Amber List (moderate evidence)	PMVK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, PMVK-related Tags
Amber Amber List (moderate evidence)	PSMA3	1 review	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Tags
Amber Amber List (moderate evidence)	PTPN2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lupus arthritis common variable immunodeficiency Tags
Amber Amber List (moderate evidence)	RC3H1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 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 Phenotypes Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related Tags
Amber Amber List (moderate evidence)	RNF31	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Amber Amber List (moderate evidence)	SCGN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ulcerative colitis, MONDO:0005101 Tags
Red Red List (low evidence)	FBXW11	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Aicardi-Goutieres syndrome MONDO:0018866 Tags
Red Red List (low evidence)	PSMA5	1 review 1 red	Other	Sources Expert Review Red Literature Phenotypes 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 Phenotypes Proteasome-associated autoinflammatory syndrome 4, MIM# 619183 CANDLE syndrome Chronic atypical neutrophilic dermatitis with lipodystrophy Tags
Red Red List (low evidence)	SIRT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autoimmune disease, MONDO:0007179, SIRT1-related Tags

Major version comments

2024-12-16 05:37 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 2.0
Fully reviewed

2022-10-15 06:55 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Autoinflammatory Disorders (Version 2.3)

19 reviewers

92 Entities

92 reviewed, 73 green

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