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

Updated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al.

12 reviewers

  • Danielle Ariti (University of Melbourne)

  • Peter McNaughton (Queensland Children's Hospital)

  • Chirag Patel (Genetic Health Queensland)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

83 Entities

83 reviewed, 66 green

List Entity Reviews Mode of inheritance Details
83 Entitiess
Green Green List (high evidence)
ACP5
1 review
1 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565
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
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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
1 review
1 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
1 review
1 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)
LACC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Juvenile arthritis MIM#618795
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)
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)
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, 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)
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)
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
  • 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
  • Autoinflammatory syndrome, MONDO:0019751, PTCRA-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
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)
RNASEH2A
1 review
1 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
1 review
1 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
1 review
1 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)
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)
TBK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, MONDO:0021094, TBK1-related, AR
  • Autoinflammation
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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
1 review
1 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)
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)
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)
SH3BP2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Cherubism, MIM# 118400
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

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