PanelApp (staging)

Activity

Filter

Cancel
Date Panel Item Activity
653 actions
Autoinflammatory Disorders v2.2 NCKAP1L Bryony Thompson Classified gene: NCKAP1L as Green List (high evidence)
Autoinflammatory Disorders v2.2 NCKAP1L Bryony Thompson Gene: nckap1l has been classified as Green List (High Evidence).
Autoinflammatory Disorders v2.1 NCKAP1L Bryony Thompson gene: NCKAP1L was added
gene: NCKAP1L was added to Autoinflammatory Disorders. Sources: Expert list
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to immunodeficiency 72 with autoinflammation MONDO:0033551
Autoinflammatory Disorders v2.0 Bryony Thompson promoted panel to version 2.0
Autoinflammatory Disorders v1.76 Bryony Thompson Panel name changed from Systemic Autoinflammatory Disease_Periodic Fever to Autoinflammatory Disorders
List of related panels changed from Fever HP:0001945 to Fever HP:0001945;Systemic autoinflammation HP:0033428
Autoinflammatory Disorders v1.74 SYK Bryony Thompson Classified gene: SYK as Green List (high evidence)
Autoinflammatory Disorders v1.74 SYK Bryony Thompson Gene: syk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.73 SYK Bryony Thompson gene: SYK was added
gene: SYK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: SYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SYK were set to 33782605
Phenotypes for gene: SYK were set to immunodeficiency 82 with systemic inflammation MONDO:0030308
Mode of pathogenicity for gene: SYK was set to Other
Autoinflammatory Disorders v1.72 TMEM173 Bryony Thompson Publications for gene: TMEM173 were set to 25401470; 25029335
Autoinflammatory Disorders v1.71 TMEM173 Bryony Thompson Mode of inheritance for gene: TMEM173 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.70 TMEM173 Bryony Thompson reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: 32673614, 36275728; Phenotypes: STING-associated vasculopathy with onset in infancy MONDO:0014405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.70 SH3BP2 Bryony Thompson Mode of pathogenicity for gene: SH3BP2 was changed from to Other
Autoinflammatory Disorders v1.69 SH3BP2 Bryony Thompson Classified gene: SH3BP2 as Green List (high evidence)
Autoinflammatory Disorders v1.69 SH3BP2 Bryony Thompson Gene: sh3bp2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.68 SH3BP2 Bryony Thompson Publications for gene: SH3BP2 were set to 26152156; 25705883; 25470448; 25220465
Autoinflammatory Disorders v1.67 SH3BP2 Bryony Thompson edited their review of gene: SH3BP2: Added comment: Cherubism is an autoinflammatory bone disorder caused by heterozygous gain of function variants mainly clustered within the peptide sequence RSPPDG lying between the PH and SH2 domains.; Changed mode of pathogenicity: Other; Changed phenotypes: Cherubism MONDO:0007315
Autoinflammatory Disorders v1.67 SH3BP2 Bryony Thompson reviewed gene: SH3BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301316; Phenotypes: herubism MONDO:0007315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v1.67 RIPK1 Bryony Thompson Marked gene: RIPK1 as ready
Autoinflammatory Disorders v1.67 RIPK1 Bryony Thompson Gene: ripk1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.67 RIPK1 Bryony Thompson Classified gene: RIPK1 as Green List (high evidence)
Autoinflammatory Disorders v1.67 RIPK1 Bryony Thompson Gene: ripk1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.66 RIPK1 Bryony Thompson gene: RIPK1 was added
gene: RIPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RIPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RIPK1 were set to 31827280; 31827281
Phenotypes for gene: RIPK1 were set to autoinflammation with episodic fever and lymphadenopathy MONDO:0030018
Mode of pathogenicity for gene: RIPK1 was set to Other
Review for gene: RIPK1 was set to GREEN
gene: RIPK1 was marked as current diagnostic
Added comment: Variants involving residue D324 impair caspase-8-mediated cleavage of RIPK1 and lead to RIPK1 activation. At least 5 families reported with D324N/H/Y and a supporting mouse model.
Sources: Expert list
Autoinflammatory Disorders v1.65 PSMD12 Bryony Thompson Classified gene: PSMD12 as Green List (high evidence)
Autoinflammatory Disorders v1.65 PSMD12 Bryony Thompson Gene: psmd12 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.64 PSMD12 Bryony Thompson gene: PSMD12 was added
gene: PSMD12 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMD12 were set to 39641441; 35080150; 34906456
Phenotypes for gene: PSMD12 were set to Stankiewicz-Isidor syndrome MONDO:0054591
Review for gene: PSMD12 was set to GREEN
Added comment: STISS cases exhibit high type I IFN scores in peripheral blood-derived immune cells, however only rarely develop typical clinical signs of autoinflammation, including skin lesions and recurrent fever. Proteasome-associated autoinflammatory syndrome (PRAAS) is typically caused by pathogenic variants in components of the proteasome and activation of the type I IFN pathway. Developmental delay is the main feature of STISS and the autoinflammation is subclinical.
Sources: Expert list
Autoinflammatory Disorders v1.63 POMP Bryony Thompson Classified gene: POMP as Green List (high evidence)
Autoinflammatory Disorders v1.63 POMP Bryony Thompson Gene: pomp has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.62 POMP Bryony Thompson gene: POMP was added
gene: POMP was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POMP were set to 29805043
Phenotypes for gene: POMP were set to proteasome-associated autoinflammatory syndrome 2 MONDO:0054700
Autoinflammatory Disorders v1.61 LYN Bryony Thompson Classified gene: LYN as Green List (high evidence)
Autoinflammatory Disorders v1.61 LYN Bryony Thompson Gene: lyn has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.60 LYN Bryony Thompson gene: LYN was added
gene: LYN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: LYN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LYN were set to 36932076; 36122175
Phenotypes for gene: LYN were set to Autoinflammatory disease, systemic, with vasculitis MONDO:0957271
Mode of pathogenicity for gene: LYN was set to Other
Autoinflammatory Disorders v1.59 LSM11 Bryony Thompson Marked gene: LSM11 as ready
Autoinflammatory Disorders v1.59 LSM11 Bryony Thompson Gene: lsm11 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.59 LSM11 Bryony Thompson gene: LSM11 was added
gene: LSM11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to Aicardi-Goutieres syndrome MONDO:0018866
Review for gene: LSM11 was set to RED
Added comment: A single consanguineous family reported so far
Sources: Expert list
Autoinflammatory Disorders v1.58 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099
Autoinflammatory Disorders v1.57 OTULIN Zornitza Stark edited their review of gene: OTULIN: Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030, Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099
Autoinflammatory Disorders v1.57 Bryony Thompson removed gene:LACC1 from the panel
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Marked gene: ATAD3A as ready
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Gene: atad3a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Classified gene: ATAD3A as Green List (high evidence)
Autoinflammatory Disorders v1.56 ATAD3A Bryony Thompson Gene: atad3a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.55 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 34387651
Phenotypes for gene: ATAD3A were set to inborn error of immunity MONDO:0003778; Harel-Yoon syndrome MONDO:0014958
Review for gene: ATAD3A was set to GREEN
gene: ATAD3A was marked as current diagnostic
Added comment: Elevated interferon-stimulated gene expression and increased serum type 1 IFNs were identified in both cases with monoallelic and biallelic variants. Classified as an inborn error of immunity (type 1 interferonopathy) by IUIS in the July 2024 IEI update.
Sources: Expert list
Autoinflammatory Disorders v1.54 IRAK2 Zornitza Stark Marked gene: IRAK2 as ready
Autoinflammatory Disorders v1.54 IRAK2 Zornitza Stark Gene: irak2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.54 IRAK2 Zornitza Stark Phenotypes for gene: IRAK2 were changed from Immune dysregulation, no OMIM # to Immune dysregulation, MONDO:0957790, IRAK2-related
Autoinflammatory Disorders v1.53 IRAK2 Zornitza Stark reviewed gene: IRAK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immune dysregulation, MONDO:0957790, IRAK2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.53 IRAK2 Chirag Patel gene: IRAK2 was added
gene: IRAK2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: IRAK2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRAK2 were set to PMID: 39299377
Phenotypes for gene: IRAK2 were set to Immune dysregulation, no OMIM #
Review for gene: IRAK2 was set to RED
Added comment: PMID: 39299377
2 individuals with sequential or repeated invasive infections with 2 different variants in IRAK2 gene found on WES testing. The IRAK kinases function as downstream signal transductors following the activation of pathogen recognition receptors. IRAK4 gene has been associated with susceptibility to severe infections by common pyogenic bacteria.

Individual 1 had herpes simplex virus-triggered hemophagocytic lymphohistiocytosis with tuberculosis, and a homozygous missense variant (L78P). There are no homozygous individuals in gnomAD (MAF 0.003%). No segregation testing reported. Individual 2 had Streptococcus pneumoniae bacteremia with candidemia, and a heterozygous missense variant (R506W) which straddles between the kinase and TRAF6-binding CTD of IRAK2. There are 15 heterozygous individuals in gnomAD for this rare variant with no homozygotes (MAF 0.012%). No segregation testing reported.

Both patients’ peripheral blood mononuclear cells showed tendencies for TNFα hypo-responsiveness to representative bacterial, fungal and viral ligands, in line with subjects with IRAK defects. Immunoprecipitation platform assay to pull down TRAF6 revealed that possession of L78P or R506W variants led to reduced TRAF6 ubiquitination. The led to TRAF6 accumulation and in turn decreased TNFα production (an inflammatory cytokine to invading pathogens). Paper does not comment on reasons for disease in biallelic and mono-allelic form.


Preprint paper:
2 individuals with immune dysregulation (1 x systemic lupus erythematosus and 1 x autoinflammatory disease) with same homozgyous exon 2 deletion in IRAK2 gene found on WES testing and confirmed with Sanger sequencing. Unaffected family members in trio were heterozygous for variant. Exon 2 encodes a proportion of the death domain, a critical protein domain for Myddosome assembly.

The patients exhibited aberrantly upregulated type I interferon (IFN) response following LPS stimulation, which was further confirmed in bone marrow-derived macrophages (BMDMs) in mice. RNA sequencing analysis indicated that PBMCs from the two patients consistently exhibited defects in activating NFkb signaling in response to LPS or R848 stimulation, as well as impaired activation of the MAPK signaling pathway. RNA sequencing demonstrated that BMDMs from Irak2 ∆ex2/∆ex2 mice exhibited defects in NFkb and MAPK signaling pathways, similar to patients’ PBMCs.
Sources: Literature
Autoinflammatory Disorders v1.52 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome to 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
Autoinflammatory Disorders v1.51 PSTPIP1 Zornitza Stark edited their review of gene: PSTPIP1: Changed 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
Autoinflammatory Disorders v1.51 PTCRA Zornitza Stark Phenotypes for gene: PTCRA were changed from Autoinflammatory syndrome, MONDO:0019751, PTCRA-related to Immunodeficiency 126, MIM# 620931
Autoinflammatory Disorders v1.50 PTCRA Zornitza Stark edited their review of gene: PTCRA: Changed phenotypes: Immunodeficiency 126, MIM# 620931
Autoinflammatory Disorders v1.50 REXO2 Zornitza Stark Marked gene: REXO2 as ready
Autoinflammatory Disorders v1.50 REXO2 Zornitza Stark Gene: rexo2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.50 REXO2 Zornitza Stark Phenotypes for gene: REXO2 were changed from type 1 interferonopathy to Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related
Autoinflammatory Disorders v1.49 REXO2 Zornitza Stark Classified gene: REXO2 as Amber List (moderate evidence)
Autoinflammatory Disorders v1.49 REXO2 Zornitza Stark Gene: rexo2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.48 REXO2 Zornitza Stark reviewed gene: REXO2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v1.48 REXO2 Peter McNaughton gene: REXO2 was added
gene: REXO2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: REXO2 were set to PMID: 39107301
Phenotypes for gene: REXO2 were set to type 1 interferonopathy
Mode of pathogenicity for gene: REXO2 was set to Other
Review for gene: REXO2 was set to AMBER
Added comment: Female infant of Chinese ancestry, presented at 2 years of age with whole-body rash with histological features of hyperkeratosis, parakeratosis and acanthosis with elongated rete ridges, focal liquefaction and degeneration of the basal layers of epidermis, vascular proliferation in the superficial dermis, infiltration of lymphocytes and eosinophils around small blood vessels in the dermis. She has recurrent infections (frequent and severe pneumonia).
Extensive functional validation demonstrating heterozygous de novo mutation (p.T132A) impairs REXO2’s ability to cleave RNA leading to activation of the dsRNA sensor MDA5 leading to a Type 1 interferonopathy.
Sources: Literature
Autoinflammatory Disorders v1.48 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation to Autoinflammation with arthritis and vasculitis, MIM# 620880
Autoinflammatory Disorders v1.47 TBK1 Zornitza Stark reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with arthritis and vasculitis, MIM# 620880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.47 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Autoinflammatory Disorders v1.47 JAK1 Zornitza Stark Gene: jak1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.47 JAK1 Zornitza Stark Classified gene: JAK1 as Green List (high evidence)
Autoinflammatory Disorders v1.47 JAK1 Zornitza Stark Gene: jak1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.46 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 38563820; 28111307
Phenotypes for gene: JAK1 were set to Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Review for gene: JAK1 was set to GREEN
Added comment: PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants.
Sources: Literature
Autoinflammatory Disorders v1.45 OTULIN Zornitza Stark Publications for gene: OTULIN were set to 27523608; 27559085
Autoinflammatory Disorders v1.44 OTULIN Zornitza Stark Mode of inheritance for gene: OTULIN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.43 OTULIN Zornitza Stark edited their review of gene: OTULIN: Added comment: Three individuals reported with de novo missense variants and auto inflammatory syndrome. Two had at the same variant, p.Cys129Ser. Experimental data supports dominant negative mechanism. Fourth individual with heterozygous variant in PMID 38129331 and severe fasciitis.; Changed publications: 27523608, 27559085, 38630025, 38652464, 38129331; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.43 SHARPIN Zornitza Stark Phenotypes for gene: SHARPIN were changed from Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related to Autoinflammation with episodic fever and immune dysregulation, MIM# 620795
Autoinflammatory Disorders v1.42 SHARPIN Zornitza Stark edited their review of gene: SHARPIN: Changed phenotypes: Autoinflammation with episodic fever and immune dysregulation, MIM# 620795
Autoinflammatory Disorders v1.42 PSMB9 Zornitza Stark Phenotypes for gene: PSMB9 were changed from Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Proteasome-associated autoinflammatory syndrome 6, MIM# 620796
Autoinflammatory Disorders v1.41 PSMB9 Zornitza Stark edited their review of gene: PSMB9: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591, Proteasome-associated autoinflammatory syndrome 6, MIM# 620796
Autoinflammatory Disorders v1.41 OTULIN Peter McNaughton reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38630025; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.41 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Autoinflammatory Disorders v1.40 ELANE Zornitza Stark edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Autoinflammatory Disorders v1.40 SHARPIN Zornitza Stark Marked gene: SHARPIN as ready
Autoinflammatory Disorders v1.40 SHARPIN Zornitza Stark Gene: sharpin has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.40 SHARPIN Zornitza Stark Phenotypes for gene: SHARPIN were changed from recurrent fever to Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related
Autoinflammatory Disorders v1.39 SHARPIN Zornitza Stark Classified gene: SHARPIN as Green List (high evidence)
Autoinflammatory Disorders v1.39 SHARPIN Zornitza Stark Gene: sharpin has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.38 SHARPIN Zornitza Stark reviewed gene: SHARPIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, SHARPIN-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.38 PTCRA Zornitza Stark Marked gene: PTCRA as ready
Autoinflammatory Disorders v1.38 PTCRA Zornitza Stark Gene: ptcra has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.38 PTCRA Zornitza Stark Classified gene: PTCRA as Green List (high evidence)
Autoinflammatory Disorders v1.38 PTCRA Zornitza Stark Gene: ptcra has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.37 PTCRA Zornitza Stark gene: PTCRA was added
gene: PTCRA was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCRA were set to 38422122
Phenotypes for gene: PTCRA were set to Autoinflammatory syndrome, MONDO:0019751, PTCRA-related
Review for gene: PTCRA was set to GREEN
Added comment: PMID:38422122 reported the identification of 10 individuals from seven kindreds from four different ethnicities with biallelic PTCRA variants (homozygous in five kindreds and compound heterozygous in two kindreds).

Six of these 10 patients were clinically asymptomatic at their most recent evaluation, while other four patients displayed infection, lymphoproliferation, and/or autoimmunity with an onset during their teens or in adulthood. One of these patients died from SARS-CoV-2 pneumonia at the age of 24 years. Patient 9 had a small thymus on MRI at the age of 2 years, whereas P5 and P6 had no visible thymus at the ages of 13 and 8 years, respectively. Three of the nine patients with pLOF PTCRA variants tested were found to produce autoantibodies, several of which were associated with clinical manifestations. Anti-thyroid autoantibodies and/or clinically overt thyroiditis were found in three of the nine patients. P7, who suffered from recurrent herpes infections, had autoantibodies against type I interferons.

Two of those identified variants are hypomorphic and are associated with autoimmunity. In addition, there is extensive functional and epidemiological data available.
Sources: Literature
Autoinflammatory Disorders v1.36 SHARPIN Peter McNaughton gene: SHARPIN was added
gene: SHARPIN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: SHARPIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHARPIN were set to PMID: 38609546
Phenotypes for gene: SHARPIN were set to recurrent fever
Review for gene: SHARPIN was set to GREEN
Added comment: Two unrelated patients with homozygous frameshift variants presenting with:
P1 - recurrent fever, parotitis, joint inflammation, colitis and chronic otitis media necessitating tympanoplasty
P2 - recurrent fever episodes with lymphadenopathy and vomiting every 2–3 weeks.

Extensive functional data and mouse model.
Sources: Literature
Autoinflammatory Disorders v1.36 PSMA5 Zornitza Stark Marked gene: PSMA5 as ready
Autoinflammatory Disorders v1.36 PSMA5 Zornitza Stark Gene: psma5 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.36 PSMA5 Zornitza Stark Phenotypes for gene: PSMA5 were changed from PRAAS/CANDLE to Inborn error of immunity, MONDO:0003778, PSMA5-related; PRAAS/CANDLE
Autoinflammatory Disorders v1.35 PSMA5 Zornitza Stark Classified gene: PSMA5 as Red List (low evidence)
Autoinflammatory Disorders v1.35 PSMA5 Zornitza Stark Gene: psma5 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.34 SCGN Zornitza Stark Marked gene: SCGN as ready
Autoinflammatory Disorders v1.34 SCGN Zornitza Stark Gene: scgn has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.34 SCGN Zornitza Stark Classified gene: SCGN as Amber List (moderate evidence)
Autoinflammatory Disorders v1.34 SCGN Zornitza Stark Gene: scgn has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.33 SCGN Zornitza Stark gene: SCGN was added
gene: SCGN was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: SCGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCGN were set to 31663849
Phenotypes for gene: SCGN were set to ulcerative colitis, MONDO:0005101
Review for gene: SCGN was set to AMBER
Added comment: PMID:31663849 reported three siblings with homozygous missense SCGN variant and with early-onset ulcerative colitis. Functional studies demonstrated that SCGN variant identified impacted the localisation of the SNARE complex partner, SNAP25, leading to impaired hormone release. In addition, SCGN knockout mouse model recapitulated impaired hormone release and susceptibility to DSS-induced colitis.
Sources: Literature
Autoinflammatory Disorders v1.32 SIRT1 Zornitza Stark Marked gene: SIRT1 as ready
Autoinflammatory Disorders v1.32 SIRT1 Zornitza Stark Gene: sirt1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.32 SIRT1 Zornitza Stark gene: SIRT1 was added
gene: SIRT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIRT1 were set to 23473037
Phenotypes for gene: SIRT1 were set to autoimmune disease, MONDO:0007179, SIRT1-related
Review for gene: SIRT1 was set to RED
Added comment: PMID:23473037 reported the identification of a missense SIRT1 variant (p.Leu107Pro) in five members of a single family and all five of them had autoimmune disorder, four had type I diabetes and one had ulcerative colitis.
Sources: Literature
Autoinflammatory Disorders v1.31 RNU7-1 Zornitza Stark Marked gene: RNU7-1 as ready
Autoinflammatory Disorders v1.31 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.31 RNU7-1 Zornitza Stark Classified gene: RNU7-1 as Green List (high evidence)
Autoinflammatory Disorders v1.31 RNU7-1 Zornitza Stark Gene: rnu7-1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.30 RNU7-1 Sangavi Sivagnanasundram gene: RNU7-1 was added
gene: RNU7-1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Other
Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU7-1 were set to 33230297; 35748970
Phenotypes for gene: RNU7-1 were set to Aicardi-Goutieres syndrome 9 (MIM#619487)
Review for gene: RNU7-1 was set to GREEN
Added comment: Reviewed from PMID: 35748970

Aicardi-Goutieres syndrome 9 (AGS9) is a type I interferonopathy typically caused by compound heterozygous mutations in RNU7-1

PubMed: 33230297
16 individuals from 11 families with AGS - all affected individuals had typical clinical features of AGS (elevated interferon score).
RT-PCR functional assay on patient and control fibroblasts were conducted that showed a loss of function mechanism of disease.
Sources: Other
Autoinflammatory Disorders v1.30 RNF31 Zornitza Stark Marked gene: RNF31 as ready
Autoinflammatory Disorders v1.30 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.30 RNF31 Zornitza Stark Classified gene: RNF31 as Amber List (moderate evidence)
Autoinflammatory Disorders v1.30 RNF31 Zornitza Stark Gene: rnf31 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.29 RNF31 Zornitza Stark gene: RNF31 was added
gene: RNF31 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert Review
Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF31 were set to 26008899; 30936877
Phenotypes for gene: RNF31 were set to Immunodeficiency 115 with autoinflammation, MIM# 620632
Review for gene: RNF31 was set to AMBER
Added comment: Two unrelated individuals reported.
Sources: Expert Review
Autoinflammatory Disorders v1.28 ARPC5 Zornitza Stark Marked gene: ARPC5 as ready
Autoinflammatory Disorders v1.28 ARPC5 Zornitza Stark Gene: arpc5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.28 ARPC5 Zornitza Stark Classified gene: ARPC5 as Green List (high evidence)
Autoinflammatory Disorders v1.28 ARPC5 Zornitza Stark Gene: arpc5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.27 ARPC5 Zornitza Stark gene: ARPC5 was added
gene: ARPC5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC5 were set to 37349293; 37382373
Phenotypes for gene: ARPC5 were set to Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565
Review for gene: ARPC5 was set to GREEN
Added comment: Four individuals from 3 families reported. In addition to recurrent infections, features of autoinflammation common: haemolytic anaemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. More variable systemic features may include coeliac disease or enteropathy, ileus, nephropathy, eczema, and dermatomyositis.
Sources: Literature
Autoinflammatory Disorders v1.26 PSMB10 Zornitza Stark Publications for gene: PSMB10 were set to 31783057
Autoinflammatory Disorders v1.25 PSMB10 Zornitza Stark Classified gene: PSMB10 as Green List (high evidence)
Autoinflammatory Disorders v1.25 PSMB10 Zornitza Stark Gene: psmb10 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.24 ELANE Zornitza Stark Publications for gene: ELANE were set to
Autoinflammatory Disorders v1.23 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Autoinflammatory Disorders v1.22 ELANE Zornitza Stark edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)

According to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 33968054, 3124897
Autoinflammatory Disorders v1.22 DDX58 Zornitza Stark Marked gene: DDX58 as ready
Autoinflammatory Disorders v1.22 DDX58 Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.22 DDX58 Zornitza Stark Phenotypes for gene: DDX58 were changed from Lupus Nephritis to Lupus Nephritis, MONDO:0005556, DDX58-related
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Classified gene: DDX58 as Green List (high evidence)
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Gene: ddx58 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Classified gene: DDX58 as Green List (high evidence)
Autoinflammatory Disorders v1.21 DDX58 Chirag Patel Gene: ddx58 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.20 DDX58 Chirag Patel gene: DDX58 was added
gene: DDX58 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX58 were set to PMID: 36261300
Phenotypes for gene: DDX58 were set to Lupus Nephritis
Review for gene: DDX58 was set to GREEN
gene: DDX58 was marked as current diagnostic
Added comment: WES in cohort of lupus nephritis patients found a novel DDX58 pathogenic variant (R109C) in 5 unrelated families. The DDX58 R109C variant is a gain-of-function mutation, elevating type I IFN signaling due to reduced autoinhibition, which leads to RIG-I hyperactivation, increased RIG-I K63 ubiquitination, and MAVS aggregation. Transcriptome analysis revealed an increased IFN signature in patient monocytes. Initiation of JAK inhibitor therapy (baricitinib 2 mg/d) effectively suppressed the IFN signal in one patient.
Sources: Literature
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Classified gene: SERPINA1 as Green List (high evidence)
Autoinflammatory Disorders v1.19 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.18 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert Review
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERPINA1 were set to 33516773
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
Review for gene: SERPINA1 was set to GREEN
Added comment: Panniculitis is a very rare, but severe, potentially fatal, feature of AAT deficiency.
Sources: Expert Review
Autoinflammatory Disorders v1.17 SAT1 Chirag Patel Classified gene: SAT1 as Green List (high evidence)
Autoinflammatory Disorders v1.17 SAT1 Chirag Patel Gene: sat1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.16 SAT1 Chirag Patel reviewed gene: SAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35977808; Phenotypes: PMID: 35977808; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Autoinflammatory Disorders v1.16 IL36RN Zornitza Stark Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, MIM# 614204 to Psoriasis 14, pustular, MIM# 614204; Autoinflammatory syndrome, MONDO:0019751, IL36RN-related
Autoinflammatory Disorders v1.15 IL36RN Zornitza Stark Mode of inheritance for gene: IL36RN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.14 IRAK4 Zornitza Stark Marked gene: IRAK4 as ready
Autoinflammatory Disorders v1.14 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.14 IRAK4 Zornitza Stark Phenotypes for gene: IRAK4 were changed from neuroinflammation, systemic autoinflammation, splenomegaly, and anemia to Autoinflammatory syndrome, MONDO:0019751, IRAK4-related
Autoinflammatory Disorders v1.13 IRAK4 Zornitza Stark Classified gene: IRAK4 as Green List (high evidence)
Autoinflammatory Disorders v1.13 IRAK4 Zornitza Stark Gene: irak4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.12 IRAK4 Zornitza Stark reviewed gene: IRAK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, MONDO:0019751, IRAK4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.12 IL36RN Peter McNaughton reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25458002; Phenotypes: Autoinflammation; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Autoinflammatory Disorders v1.12 IRAK4 Peter McNaughton gene: IRAK4 was added
gene: IRAK4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: IRAK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IRAK4 were set to PMID: 37744344
Phenotypes for gene: IRAK4 were set to neuroinflammation, systemic autoinflammation, splenomegaly, and anemia
Review for gene: IRAK4 was set to GREEN
Added comment: 5 patients from 2 unrelated kindreds with bi-allelic mutations in IRAK4, resulting in a severe autoinflammatory phenotype without overt immune deficiency, presenting with fever without infection, increased inflammatory markers, massive splenomegaly, transfusion dependent anemia; and severe neuroinflammation in 3/5 cases.
Sources: Literature
Autoinflammatory Disorders v1.12 PSMA5 Peter McNaughton gene: PSMA5 was added
gene: PSMA5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PSMA5 was set to Other
Publications for gene: PSMA5 were set to PMID: 37600812
Phenotypes for gene: PSMA5 were set to PRAAS/CANDLE
Review for gene: PSMA5 was set to RED
Added comment: Single patient with heterozygous PSMB8 variant and de-novo PSMA5 truncating variant (p.Arg168*) with clinical features of CANDLE. Patient also had splice site variant in PSMC5. In silico modelling showing interaction of PSMB8 and PSMA5. PSMA5/a5 is a constitutive component of the 20S core proteasome, ? digenic model of disease.
Sources: Literature
Autoinflammatory Disorders v1.12 PSMB10 Peter McNaughton reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37600812; Phenotypes: CANDLE/PRAAS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.12 RELA Zornitza Stark Marked gene: RELA as ready
Autoinflammatory Disorders v1.12 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.12 RELA Zornitza Stark Phenotypes for gene: RELA were changed from periodic fever, inflammatory bowel disease, JIA to Mucocutaneous ulceration, chronic, MIM# 618287; periodic fever, inflammatory bowel disease, JIA
Autoinflammatory Disorders v1.11 RELA Zornitza Stark Classified gene: RELA as Green List (high evidence)
Autoinflammatory Disorders v1.11 RELA Zornitza Stark Gene: rela has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.10 RELA Zornitza Stark reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucocutaneous ulceration, chronic, MIM# 618287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v1.10 DPP9 Zornitza Stark Mode of inheritance for gene: DPP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.9 DPP9 Peter McNaughton edited their review of gene: DPP9: Added comment: de novo monoallelic dominant-negative mutation in DPP9 (c.755G>C, R252P) presenting with HLH at ~2m. Functional data supporting dominant negative mechanism.; Changed publications: PMID: 37544411; Changed phenotypes: HLH; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.9 RELA Peter McNaughton gene: RELA was added
gene: RELA was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RELA were set to PMID: 37273177
Phenotypes for gene: RELA were set to periodic fever, inflammatory bowel disease, JIA
Review for gene: RELA was set to GREEN
Added comment: Dominant negative RELA mutations in six patients from five unrelated families. Phenotypic overlap with RELA haploinsufficiency - chronic mucocutaneous ulcerations and autoimmune hematological disorders such as immune thrombocytopenia (ITP) and neutropenia. Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement.
Sources: Literature
Autoinflammatory Disorders v1.9 IL1R1 Zornitza Stark Marked gene: IL1R1 as ready
Autoinflammatory Disorders v1.9 IL1R1 Zornitza Stark Gene: il1r1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.9 IL1R1 Zornitza Stark gene: IL1R1 was added
gene: IL1R1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IL1R1 were set to 37315560
Phenotypes for gene: IL1R1 were set to Chronic recurrent multifocal osteomyelitis 3, MIM# 259680
Review for gene: IL1R1 was set to RED
Added comment: Single individual reported with de novo missense variant in this gene and a phenotype of chronic recurrent multifocal osteomyelitis, auto inflammatory in nature. Some functional data presented.
Sources: Literature
Autoinflammatory Disorders v1.8 STAT4 Elena Savva Classified gene: STAT4 as Green List (high evidence)
Autoinflammatory Disorders v1.8 STAT4 Elena Savva Gene: stat4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Classified gene: STAT4 as Green List (high evidence)
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Gene: stat4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Classified gene: STAT4 as Green List (high evidence)
Autoinflammatory Disorders v1.7 STAT4 Elena Savva Gene: stat4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v1.6 STAT4 Elena Savva Marked gene: STAT4 as ready
Autoinflammatory Disorders v1.6 STAT4 Elena Savva Gene: stat4 has been removed from the panel.
Autoinflammatory Disorders v1.6 STAT4 Melanie Marty gene: STAT4 was added
gene: STAT4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: STAT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT4 were set to PMID: 37256972
Phenotypes for gene: STAT4 were set to Disabling pansclerotic morphea of childhood MIM#620443
Mode of pathogenicity for gene: STAT4 was set to Other
Review for gene: STAT4 was set to GREEN
Added comment: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. These variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.
Sources: Literature
Autoinflammatory Disorders v1.6 PMVK Zornitza Stark Phenotypes for gene: PMVK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, PMVK-related
Autoinflammatory Disorders v1.5 PMVK Zornitza Stark Classified gene: PMVK as Amber List (moderate evidence)
Autoinflammatory Disorders v1.5 PMVK Zornitza Stark Gene: pmvk has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v1.4 PMVK Peter McNaughton gene: PMVK was added
gene: PMVK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PMVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMVK were set to PMID: 37364720; 36410683
Phenotypes for gene: PMVK were set to Autoinflammation
Review for gene: PMVK was set to AMBER
Added comment: Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.
Sources: Literature
Autoinflammatory Disorders v1.4 DPP9 Sarah Pantaleo reviewed gene: DPP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36112693; Phenotypes: Hatipoglu immunodeficiency syndrome MIM#620331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v1.4 HCK Zornitza Stark Phenotypes for gene: HCK were changed from Autoinflammatory syndrome, MONDO:0019751, HCK-related to Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296
Autoinflammatory Disorders v1.3 HCK Zornitza Stark reviewed gene: HCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v1.3 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Autoinflammatory syndrome MONDO:0019751, CEBPE-related to Immunodeficiency 108 with autoinflammation , MIM# 260570
Autoinflammatory Disorders v1.2 CEBPE Zornitza Stark edited their review of gene: CEBPE: Changed phenotypes: Immunodeficiency 108 with autoinflammation, MIM# 260570
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Marked gene: FBXW11 as ready
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.2 FBXW11 Zornitza Stark Phenotypes for gene: FBXW11 were changed from Autoinflammation to Autoinflammatory disorder MONDO:0019751, FBXW11-related
Autoinflammatory Disorders v1.1 FBXW11 Zornitza Stark Classified gene: FBXW11 as Red List (low evidence)
Autoinflammatory Disorders v1.1 FBXW11 Zornitza Stark Gene: fbxw11 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v1.0 FBXW11 Zornitza Stark reviewed gene: FBXW11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disorder MONDO:0019751, FBXW11-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v1.0 FBXW11 Peter McNaughton gene: FBXW11 was added
gene: FBXW11 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW11 were set to PMID: 36250618
Phenotypes for gene: FBXW11 were set to Autoinflammation
Review for gene: FBXW11 was set to RED
Added comment: Single patient with autoinflammatory disorder characterised by recurrent periodic fever and severe headaches. Functional studies showing increased NF-kB phosphorylation, increased p65 phosphorylation and increased IL-1B production.
Sources: Literature
Autoinflammatory Disorders v1.0 Zornitza Stark promoted panel to version 1.0
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.190 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Autoinflammatory Disorders v0.189 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Autoinflammatory Disorders v0.188 TRNT1 Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark commented on gene: TRNT1: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anaemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopaenia and hypogammaglobulinaemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.

> 10 families reported.
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark edited their review of gene: TRNT1: Changed publications: 25193871, 23553769, 29170023, 27389523
Autoinflammatory Disorders v0.187 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.187 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Autoinflammatory Disorders v0.186 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Autoinflammatory Disorders v0.185 SLC29A3 Zornitza Stark Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark edited their review of gene: SLC29A3: Changed publications: 18940313, 19336477, 22238637
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark commented on gene: SLC29A3: The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID).

Multiple families reported.
Autoinflammatory Disorders v0.184 SLC29A3 Zornitza Stark reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Marked gene: PLCG2 as ready
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Gene: plcg2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.184 PLCG2 Zornitza Stark Phenotypes for gene: PLCG2 were changed from to Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Autoinflammatory Disorders v0.183 PLCG2 Zornitza Stark Publications for gene: PLCG2 were set to
Autoinflammatory Disorders v0.182 PLCG2 Zornitza Stark Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.181 PLCG2 Zornitza Stark reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31853824, 32671674, 22236196; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Marked gene: NLRP3 as ready
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.181 NLRP3 Zornitza Stark Phenotypes for gene: NLRP3 were changed from to Familial cold inflammatory syndrome 1, MIM# 120100; Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772; CINCA syndrome, MIM#12032915 607115
Autoinflammatory Disorders v0.180 NLRP3 Zornitza Stark Publications for gene: NLRP3 were set to
Autoinflammatory Disorders v0.179 NLRP3 Zornitza Stark Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.178 NLRP3 Zornitza Stark reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12032915, 12483741, 28847925, 11687797; Phenotypes: Familial cold inflammatory syndrome 1, MIM# 120100, Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772, CINCA syndrome, MIM#12032915 607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Marked gene: IL36RN as ready
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Gene: il36rn has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.178 IL36RN Zornitza Stark Phenotypes for gene: IL36RN were changed from to Psoriasis 14, pustular, MIM# 614204
Autoinflammatory Disorders v0.177 IL36RN Zornitza Stark Publications for gene: IL36RN were set to
Autoinflammatory Disorders v0.176 IL36RN Zornitza Stark Mode of inheritance for gene: IL36RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.175 IL36RN Zornitza Stark reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21848462, 21839423, 22903787; Phenotypes: Psoriasis 14, pustular, MIM# 614204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Marked gene: ELANE as ready
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.175 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from to Neutropenia, cyclic MIM#162800
Autoinflammatory Disorders v0.174 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.173 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, cyclic MIM#162800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Marked gene: CARD14 as ready
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Gene: card14 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.173 CARD14 Zornitza Stark Phenotypes for gene: CARD14 were changed from to Psoriasis 2, MIM# 602723
Autoinflammatory Disorders v0.172 CARD14 Zornitza Stark Publications for gene: CARD14 were set to
Autoinflammatory Disorders v0.171 CARD14 Zornitza Stark Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.170 CARD14 Zornitza Stark reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 34118208, 31286971, 30783801; Phenotypes: Psoriasis 2, MIM# 602723; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.170 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Autoinflammatory Disorders v0.169 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Autoinflammatory Disorders v0.168 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.167 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.167 Zornitza Stark List of related panels changed from to Fever HP:0001945
Autoinflammatory Disorders v0.166 DPP9 Zornitza Stark Marked gene: DPP9 as ready
Autoinflammatory Disorders v0.166 DPP9 Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.166 DPP9 Zornitza Stark Phenotypes for gene: DPP9 were changed from recurrent fevers; repeated infections; herpes susceptibility; cytopaenias to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopaenias
Autoinflammatory Disorders v0.165 DPP9 Zornitza Stark Classified gene: DPP9 as Green List (high evidence)
Autoinflammatory Disorders v0.165 DPP9 Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.164 DPP9 Peter McNaughton gene: DPP9 was added
gene: DPP9 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPP9 were set to PMID: 36112693
Phenotypes for gene: DPP9 were set to recurrent fevers; repeated infections; herpes susceptibility; cytopaenias
Review for gene: DPP9 was set to GREEN
Added comment: Three unrelated families with Hatipoğlu syndrome with biochemical and cellular assays, mouse and zebrafish models. Immunological features of recurrent fevers, repeated infections, herpes susceptibility, cytopaenias.
Sources: Literature
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Marked gene: SAT1 as ready
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Marked gene: SAT1 as ready
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Classified gene: SAT1 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.164 SAT1 Zornitza Stark Gene: sat1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.163 SAT1 Ee Ming Wong gene: SAT1 was added
gene: SAT1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: SAT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SAT1 were set to 25977808
Phenotypes for gene: SAT1 were set to Systemic lupus erythematosus, MONDO:0007915, SAT1-related
Penetrance for gene: SAT1 were set to unknown
Review for gene: SAT1 was set to AMBER
gene: SAT1 was marked as current diagnostic
Added comment: - Two SAT1 loss of function variants reported in four SLE males across two American-African families, inherited from their unaffected mothers
- Using a minigene assay, the p.(Asp40Tyr) variant was shown to result in aberrant splicing
- Hemizygous knock-in male mice and homozygous female mice carrying the p.(Glu92Leufs*6) variant spontaneously developed lupus-like autoimmune disease, including splenomegaly, glomerular infiltration of leukocytes, proteinuria and elevated type I interferon scores
Sources: Literature
Autoinflammatory Disorders v0.163 CEBPE Zornitza Stark Marked gene: CEBPE as ready
Autoinflammatory Disorders v0.163 CEBPE Zornitza Stark Gene: cebpe has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.163 CEBPE Zornitza Stark Phenotypes for gene: CEBPE were changed from Autoinflammation to Autoinflammatory syndrome MONDO:0019751, CEBPE-related
Autoinflammatory Disorders v0.162 CEBPE Zornitza Stark Classified gene: CEBPE as Amber List (moderate evidence)
Autoinflammatory Disorders v0.162 CEBPE Zornitza Stark Gene: cebpe has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.161 CEBPE Zornitza Stark changed review comment from: Three individuals from a single family homozygous for a missense variant. Extensive functional data presented.; to: Three individuals from a single family homozygous for a missense variant. Extensive functional data presented. Gene already has an established role in immunological disorders.
Autoinflammatory Disorders v0.161 CEBPE Zornitza Stark reviewed gene: CEBPE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.161 TBK1 Zornitza Stark Phenotypes for gene: TBK1 were changed from Autoinflammation to Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation
Autoinflammatory Disorders v0.160 ALPK1 Zornitza Stark Publications for gene: ALPK1 were set to 31053777
Autoinflammatory Disorders v0.159 ALPK1 Zornitza Stark Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979; Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Autoinflammatory Disorders v0.158 ALPK1 Zornitza Stark Classified gene: ALPK1 as Green List (high evidence)
Autoinflammatory Disorders v0.158 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.157 TBK1 Bryony Thompson Marked gene: TBK1 as ready
Autoinflammatory Disorders v0.157 TBK1 Bryony Thompson Gene: tbk1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.157 TBK1 Bryony Thompson Classified gene: TBK1 as Green List (high evidence)
Autoinflammatory Disorders v0.157 TBK1 Bryony Thompson Gene: tbk1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.156 CEBPE Peter McNaughton gene: CEBPE was added
gene: CEBPE was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEBPE were set to PMID: 31201888
Phenotypes for gene: CEBPE were set to Autoinflammation
Mode of pathogenicity for gene: CEBPE was set to Other
Review for gene: CEBPE was set to AMBER
Added comment: Single family presenting with autoinflammatory syndrome - recurrent attacks of abdominal pain, aseptic fever, and systemic inflammation lasting 4 to 5 days. These were accompanied by an acute-phase response and occasionally by nailbed, tongue, submandibular and gluteal abscesses; intra-abdominal granulomas; pyoderma gangrenosum; and buccal ulcerations
Sources: Literature
Autoinflammatory Disorders v0.156 TBK1 Peter McNaughton gene: TBK1 was added
gene: TBK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: TBK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBK1 were set to PMID: 34363755
Phenotypes for gene: TBK1 were set to Autoinflammation
Review for gene: TBK1 was set to GREEN
Added comment: 4 individuals from 3 unrelated families with biallelic LOF mutations with early onset autoinflammatory syndrome without susceptibility to viral infection.
Sources: Literature
Autoinflammatory Disorders v0.156 ALPK1 Peter McNaughton reviewed gene: ALPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35868845; Phenotypes: retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis, headache; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.156 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to 26524591
Autoinflammatory Disorders v0.155 PSMB9 Zornitza Stark Mode of pathogenicity for gene: PSMB9 was changed from to Other
Autoinflammatory Disorders v0.154 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.153 PSMB9 Zornitza Stark Classified gene: PSMB9 as Green List (high evidence)
Autoinflammatory Disorders v0.153 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.152 HCK Zornitza Stark Marked gene: HCK as ready
Autoinflammatory Disorders v0.152 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.152 HCK Zornitza Stark Phenotypes for gene: HCK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, HCK-related
Autoinflammatory Disorders v0.151 HCK Zornitza Stark Classified gene: HCK as Amber List (moderate evidence)
Autoinflammatory Disorders v0.151 HCK Zornitza Stark Gene: hck has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.150 PSMB9 Peter McNaughton reviewed gene: PSMB9: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34819510; Phenotypes: Autoinflammation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.150 HCK Peter McNaughton gene: HCK was added
gene: HCK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: HCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HCK were set to PMID: 34536415
Phenotypes for gene: HCK were set to Autoinflammation
Mode of pathogenicity for gene: HCK was set to Other
Review for gene: HCK was set to AMBER
Added comment: Single patient with supportive functional data.
Sources: Literature
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.149 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IKBKG were set to 31874111; 35289316
Phenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked, MIM# 301081
Review for gene: IKBKG was set to GREEN
Added comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature.

6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features.
Sources: Expert list
Autoinflammatory Disorders v0.148 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Autoinflammatory Disorders v0.147 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Autoinflammatory Disorders v0.147 DNASE2 Zornitza Stark Phenotypes for gene: DNASE2 were changed from Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH to Autoinflammatory-pancytopaenia syndrome, MIM# 619858
Autoinflammatory Disorders v0.146 DNASE2 Zornitza Stark edited their review of gene: DNASE2: Changed phenotypes: Autoinflammatory-pancytopaenia syndrome, MIM# 619858
Autoinflammatory Disorders v0.146 TLR8 Zornitza Stark Publications for gene: TLR8 were set to 34981838
Autoinflammatory Disorders v0.145 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Autoinflammatory Disorders v0.145 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.144 TLR8 Zornitza Stark reviewed gene: TLR8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33512449; Phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory Disorders v0.144 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Autoinflammatory Disorders v0.144 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.144 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Autoinflammatory Disorders v0.143 PSTPIP1 Zornitza Stark Publications for gene: PSTPIP1 were set to
Autoinflammatory Disorders v0.142 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.141 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11971877, 34938582, 34778321, 34745107, 34492165, 34047005; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.141 PIK3CG Zornitza Stark Phenotypes for gene: PIK3CG were changed from Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis to Immunodeficiency 97 with autoinflammation, MIM# 619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Autoinflammatory Disorders v0.140 PIK3CG Zornitza Stark edited their review of gene: PIK3CG: Changed phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802, Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Autoinflammatory Disorders v0.139 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Autoinflammatory Disorders v0.138 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.137 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Marked gene: NLRC4 as ready
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Phenotypes for gene: NLRC4 were changed from to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050
Autoinflammatory Disorders v0.136 NLRC4 Zornitza Stark Publications for gene: NLRC4 were set to
Autoinflammatory Disorders v0.135 NLRC4 Zornitza Stark Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.134 NLRC4 Krithika Murali reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25217959, 25385754, 25217960; Phenotypes: ?Familial cold autoinflammatory syndrome 4 - MIM#616115, Autoinflammation with infantile enterocolitis - MIM#616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.134 IL1RN Zornitza Stark Marked gene: IL1RN as ready
Autoinflammatory Disorders v0.134 IL1RN Zornitza Stark Gene: il1rn has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.134 IL1RN Zornitza Stark Phenotypes for gene: IL1RN were changed from to Interleukin 1 receptor antagonist deficiency, MIM# 612852
Autoinflammatory Disorders v0.133 IL1RN Zornitza Stark Publications for gene: IL1RN were set to
Autoinflammatory Disorders v0.132 IL1RN Zornitza Stark Mode of inheritance for gene: IL1RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.131 IL1RN Zornitza Stark reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19494218, 32819369; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM# 612852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.131 IL6ST Zornitza Stark Marked gene: IL6ST as ready
Autoinflammatory Disorders v0.131 IL6ST Zornitza Stark Gene: il6st has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.131 IL6ST Zornitza Stark gene: IL6ST was added
gene: IL6ST was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: IL6ST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IL6ST were set to 33517393
Phenotypes for gene: IL6ST were set to Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750
Review for gene: IL6ST was set to RED
Added comment: PMID: 33517393 - Materna-Kiryluk et al 2021 - describe a patient with a novel syndrome of neonatal onset immunodeficiency with autoinflammation and dysmorphic features. The patient was found using exome sequencing to have a de novo IL6ST Tyr186_Tyr190del variant, which was present as a mosaic. It was found in around 15–40% of cells depending on the tissue (blood, urine sediment, hair bulbs and buccal swab).
Sources: Literature
Autoinflammatory Disorders v0.130 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated to Autoinflammatory syndrome MONDO:0019751, TLR8-associated
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Marked gene: TLR8 as ready
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Gene: tlr8 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.129 TLR8 Seb Lunke Phenotypes for gene: TLR8 were changed from Severe autoimmune hemolytic anemia and autoinflammation to periodic fever-infantile enterocolitis-autoinflammatory syndrome, MONDO:0014472, TLR8-associated
Autoinflammatory Disorders v0.128 TLR8 Seb Lunke Classified gene: TLR8 as Red List (low evidence)
Autoinflammatory Disorders v0.128 TLR8 Seb Lunke Gene: tlr8 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres reviewed gene: TLR8: Rating: RED; Mode of pathogenicity: None; Publications: 34981838; Phenotypes: Severe autoimmune hemolytic anemia and autoinflammation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres Deleted their review
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres changed review comment from: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.
Sources: Literature; to: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.
Sources: Literature
Autoinflammatory Disorders v0.127 TLR8 Michelle Torres gene: TLR8 was added
gene: TLR8 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 34981838
Phenotypes for gene: TLR8 were set to Severe autoimmune hemolytic anemia and autoinflammation
Review for gene: TLR8 was set to AMBER
Added comment: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune hemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.
Sources: Literature
Autoinflammatory Disorders v0.127 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Autoinflammatory Disorders v0.126 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Marked gene: LACC1 as ready
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Classified gene: LACC1 as Green List (high evidence)
Autoinflammatory Disorders v0.126 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.125 LACC1 Bryony Thompson gene: LACC1 was added
gene: LACC1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577
Phenotypes for gene: LACC1 were set to Juvenile arthritis MIM#618795
Review for gene: LACC1 was set to GREEN
Added comment: At least 43 cases with biallelic variants (7 different variants) from 17 mainly consanguineous families reported. At least 10 of the families had systemic disease, which all demonstrated increased inflammatory markers.
Sources: Literature
Autoinflammatory Disorders v0.124 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Autoinflammatory Disorders v0.124 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.124 TNFAIP3 Zornitza Stark Phenotypes for gene: TNFAIP3 were changed from to Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744
Autoinflammatory Disorders v0.123 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to
Autoinflammatory Disorders v0.122 TNFAIP3 Zornitza Stark Mode of inheritance for gene: TNFAIP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.121 TNFAIP3 Zornitza Stark reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642243; Phenotypes: Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744; Mode of inheritance: None
Autoinflammatory Disorders v0.121 LPIN2 Zornitza Stark Marked gene: LPIN2 as ready
Autoinflammatory Disorders v0.121 LPIN2 Zornitza Stark Gene: lpin2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.121 LPIN2 Zornitza Stark Phenotypes for gene: LPIN2 were changed from to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia
Autoinflammatory Disorders v0.120 LPIN2 Zornitza Stark Publications for gene: LPIN2 were set to
Autoinflammatory Disorders v0.119 LPIN2 Zornitza Stark Mode of inheritance for gene: LPIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.118 LPIN2 Zornitza Stark reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15994876, 33993107, 33670882, 33314777, 31727123; Phenotypes: Majeed syndrome, MIM# 609628, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.118 RBCK1 Zornitza Stark Marked gene: RBCK1 as ready
Autoinflammatory Disorders v0.118 RBCK1 Zornitza Stark Gene: rbck1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.118 RBCK1 Zornitza Stark Phenotypes for gene: RBCK1 were changed from to 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
Autoinflammatory Disorders v0.117 RBCK1 Zornitza Stark Publications for gene: RBCK1 were set to
Autoinflammatory Disorders v0.116 RBCK1 Zornitza Stark Mode of inheritance for gene: RBCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.115 RBCK1 Danielle Ariti reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29260357, 29695863; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Autoinflammatory Disorders v0.115 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.114 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740; 33945503
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Autoinflammatory Disorders v0.113 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Marked gene: OAS1 as ready
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Classified gene: OAS1 as Green List (high evidence)
Autoinflammatory Disorders v0.112 OAS1 Zornitza Stark Gene: oas1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.111 OAS1 Zornitza Stark gene: OAS1 was added
gene: OAS1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OAS1 were set to 34145065
Phenotypes for gene: OAS1 were set to Autoinflammatory immunodeficiency
Review for gene: OAS1 was set to GREEN
Added comment: 6 individuals reported with four different GoF variants and a polymorphic autoinflammatory immunodeficiency characterized by recurrent fever, dermatitis, inflammatory bowel disease, pulmonary alveolar proteinosis, and hypogammaglobulinemia.
Sources: Literature
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Marked gene: ZNFX1 as ready
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Classified gene: ZNFX1 as Green List (high evidence)
Autoinflammatory Disorders v0.110 ZNFX1 Zornitza Stark Gene: znfx1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.109 ZNFX1 Zornitza Stark gene: ZNFX1 was added
gene: ZNFX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNFX1 were set to 33872655
Phenotypes for gene: ZNFX1 were set to Multisystem inflammation; susceptibility to viral infections
Review for gene: ZNFX1 was set to GREEN
Added comment: 15 individuals from 8 families reported.
Sources: Literature
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Marked gene: STXBP3 as ready
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Classified gene: STXBP3 as Green List (high evidence)
Autoinflammatory Disorders v0.108 STXBP3 Zornitza Stark Gene: stxbp3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.107 STXBP3 Zornitza Stark gene: STXBP3 was added
gene: STXBP3 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: STXBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP3 were set to 33891011
Phenotypes for gene: STXBP3 were set to Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation
Review for gene: STXBP3 was set to GREEN
Added comment: 10 individuals from 5 families reported.
Sources: Literature
Autoinflammatory Disorders v0.106 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Autoinflammatory Disorders v0.106 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.106 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Autoinflammatory Disorders v0.105 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Autoinflammatory Disorders v0.104 PSMB8 Zornitza Stark Mode of inheritance for gene: PSMB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.103 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040, MONDO:0054698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.103 PSMG2 Zornitza Stark Phenotypes for gene: PSMG2 were changed from CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy to Proteasome-associated autoinflammatory syndrome 4, MIM# 619183; CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Autoinflammatory Disorders v0.102 PSMG2 Zornitza Stark edited their review of gene: PSMG2: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 4, MIM# 619183, CANDLE syndrome, Chronic atypical neutrophilic dermatitis with lipodystrophy
Autoinflammatory Disorders v0.102 PSMB10 Zornitza Stark Phenotypes for gene: PSMB10 were changed from Autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Autoinflammatory Disorders v0.101 PSMB10 Zornitza Stark edited their review of gene: PSMB10: Changed phenotypes: Proteasome-associated autoinflammatory syndrome 5, MIM# 619175, Autoinflammatory syndrome
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Marked gene: MVK as ready
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.101 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)
Autoinflammatory Disorders v0.100 MVK Zornitza Stark Publications for gene: MVK were set to
Autoinflammatory Disorders v0.99 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.98 MVK Crystle Lee reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29047407, 26409462; Phenotypes: Hyper-IgD syndrome (MIM#260920), Mevalonic aciduria (MIM#610377); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.98 UBA1 Zornitza Stark Phenotypes for gene: UBA1 were changed from Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) to Autoinflammatory disease, adult onset; VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054
Autoinflammatory Disorders v0.97 UBA1 Zornitza Stark Publications for gene: UBA1 were set to
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark edited their review of gene: UBA1: Changed phenotypes: Autoinflammatory disease, adult onset, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark edited their review of gene: UBA1: Changed publications: 33108101
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Marked gene: UBA1 as ready
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Tag somatic tag was added to gene: UBA1.
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Classified gene: UBA1 as Green List (high evidence)
Autoinflammatory Disorders v0.96 UBA1 Zornitza Stark Gene: uba1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.95 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: UBA1 was set to Other
Phenotypes for gene: UBA1 were set to Autoinflammatory disease, adult onset; VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
Review for gene: UBA1 was set to GREEN
Added comment: 25 men reported with somatic mutations affecting methionine-41 (p.Met41) in UBA1, the major E1 enzyme that initiates ubiquitylation, and an often fatal, treatment-refractory inflammatory syndrome develops in late adulthood, with fevers, cytopaenias, characteristic vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow, neutrophilic cutaneous and pulmonary inflammation, chondritis, and vasculitis.
Sources: Literature
Autoinflammatory Disorders v0.94 RC3H1 Zornitza Stark Phenotypes for gene: RC3H1 were changed from Relapsing HLH to Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998
Autoinflammatory Disorders v0.93 RC3H1 Zornitza Stark edited their review of gene: RC3H1: Changed phenotypes: Relapsing HLH, Hemophagocytic lymphohistiocytosis, familial, 6 618998
Autoinflammatory Disorders v0.93 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Autoinflammatory Disorders v0.93 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.93 OTULIN Zornitza Stark Phenotypes for gene: OTULIN were changed from to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Autoinflammatory Disorders v0.92 OTULIN Zornitza Stark Publications for gene: OTULIN were set to
Autoinflammatory Disorders v0.91 OTULIN Zornitza Stark Mode of inheritance for gene: OTULIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.90 OTULIN Zornitza Stark reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523608, 27559085; Phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Marked gene: NOD2 as ready
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Gene: nod2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.90 NOD2 Zornitza Stark Phenotypes for gene: NOD2 were changed from to Blau syndrome, MIM# 186580
Autoinflammatory Disorders v0.89 NOD2 Zornitza Stark Publications for gene: NOD2 were set to
Autoinflammatory Disorders v0.88 NOD2 Zornitza Stark Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.87 NOD2 Zornitza Stark reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Autoinflammatory Disorders v0.87 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.86 WDR1 Zornitza Stark gene: WDR1 was added
gene: WDR1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR1 were set to 27557945; 29751004; 27994071
Phenotypes for gene: WDR1 were set to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Review for gene: WDR1 was set to GREEN
Added comment: At least 7 families reported.
Sources: Expert list
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Marked gene: PTPN2 as ready
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Classified gene: PTPN2 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.85 PTPN2 Bryony Thompson Gene: ptpn2 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.84 PTPN2 Bryony Thompson gene: PTPN2 was added
gene: PTPN2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PTPN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTPN2 were set to 32499645; 27658548
Phenotypes for gene: PTPN2 were set to Lupus; arthritis; common variable immunodeficiency
Review for gene: PTPN2 was set to AMBER
Added comment: A single family with a proband diagnosed with CVID and arthiritis (among other features) with an intronic expression quantitative trait loci (eQTL) rs2847297-G in trans with a stopgain variant. The stopgain variant was also identified in the proband's mother, who was diagnosed with lupus. A Ptpn2 deficient mouse model also demonstrates an autoimmune phenotype.
Sources: Literature
Autoinflammatory Disorders v0.83 MEFV Zornitza Stark Marked gene: MEFV as ready
Autoinflammatory Disorders v0.83 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.83 MEFV Zornitza Stark Phenotypes for gene: MEFV were changed from to Familial Mediterranean fever, AD, MIM# 134610; Familial Mediterranean fever, AR, MIM# 249100; Neutrophilic dermatosis, MIM#608068
Autoinflammatory Disorders v0.82 MEFV Zornitza Stark Publications for gene: MEFV were set to
Autoinflammatory Disorders v0.81 MEFV Zornitza Stark Mode of inheritance for gene: MEFV was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.80 MEFV Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: 27030597, 28835462; Phenotypes: Familial Mediterranean fever, AD, MIM# 134610, Familial Mediterranean fever, AR, MIM# 249100, Neutrophilic dermatosis, MIM#608068; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Marked gene: PIK3CG as ready
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Classified gene: PIK3CG as Green List (high evidence)
Autoinflammatory Disorders v0.80 PIK3CG Zornitza Stark Gene: pik3cg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.79 PIK3CG Zornitza Stark gene: PIK3CG was added
gene: PIK3CG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PIK3CG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIK3CG were set to 32001535; 31554793
Phenotypes for gene: PIK3CG were set to Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Review for gene: PIK3CG was set to GREEN
Added comment: Two individuals with complex immunological phenotypes reported and a mouse model.
Sources: Literature
Autoinflammatory Disorders v0.78 RC3H1 Zornitza Stark Classified gene: RC3H1 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.78 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark changed review comment from: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature; to: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data including mouse model.
Sources: Literature
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark edited their review of gene: RC3H1: Changed rating: AMBER; Changed publications: 31636267, 15917799
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark Marked gene: RC3H1 as ready
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark Gene: rc3h1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.77 RC3H1 Zornitza Stark gene: RC3H1 was added
gene: RC3H1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: RC3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RC3H1 were set to 31636267
Phenotypes for gene: RC3H1 were set to Relapsing HLH
Review for gene: RC3H1 was set to RED
Added comment: Single individual with bi-allelic LoF variant and relapsing HLH reported, some functional data.
Sources: Literature
Autoinflammatory Disorders v0.76 PSMB10 Zornitza Stark Marked gene: PSMB10 as ready
Autoinflammatory Disorders v0.76 PSMB10 Zornitza Stark Gene: psmb10 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.76 PSMB10 Zornitza Stark gene: PSMB10 was added
gene: PSMB10 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB10 were set to 31783057
Phenotypes for gene: PSMB10 were set to Autoinflammatory syndrome
Review for gene: PSMB10 was set to RED
Added comment: PSMB10 is part of the immunoproteasome, and other components cause auto inflammatory disorders. Single individual with homozygous missense variant reported.
Sources: Literature
Autoinflammatory Disorders v0.75 CDC42 Zornitza Stark Publications for gene: CDC42 were set to 31601675; 32303876
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark edited their review of gene: CDC42: Changed publications: 31601675, 32303876, 32231661
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark changed review comment from: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Sources: Literature; to: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Yet another individual in PMID 32231661 with different de novo variant, p.Cys81Tyr who in addition developed haematological malignancy and also had syndromic features, including ID. Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Sources: Literature
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Marked gene: CDC42 as ready
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Classified gene: CDC42 as Green List (high evidence)
Autoinflammatory Disorders v0.74 CDC42 Zornitza Stark Gene: cdc42 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.73 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDC42 were set to 31601675; 32303876
Phenotypes for gene: CDC42 were set to Neonatal-onset cytopaenia with dyshaematopoiesis; autoinflammation; rash; HLH
Review for gene: CDC42 was set to GREEN
Added comment: PMID 31601675: four unrelated individuals with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. All shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C). Another pair of sibs reported in PMID 32303876 with infantile myelofibrosis and myeloproliferation and same variant (parental mosaicism). Note other missense variants in this gene cause Takenouchi-Kosaki syndrome, MIM# 616737
Sources: Literature
Autoinflammatory Disorders v0.72 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Autoinflammatory Disorders v0.72 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.72 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Autoinflammatory disorder
Autoinflammatory Disorders v0.71 STAT2 Zornitza Stark Classified gene: STAT2 as Green List (high evidence)
Autoinflammatory Disorders v0.71 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.70 STAT2 Zornitza Stark gene: STAT2 was added
gene: STAT2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAT2 were set to 31836668; 32092142
Review for gene: STAT2 was set to GREEN
Added comment: Three individuals from two unrelated families reported with bi-allelic GoF variants and severe auto inflammatory disease. Functional data. Note gene is already associated with other immune phenotypes.
Sources: Literature
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Marked gene: ALPK1 as ready
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Classified gene: ALPK1 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.69 ALPK1 Zornitza Stark Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.68 ALPK1 Zornitza Stark gene: ALPK1 was added
gene: ALPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 31053777
Phenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Review for gene: ALPK1 was set to AMBER
Added comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling.
Sources: Literature
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Marked gene: COPA as ready
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Gene: copa has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.67 COPA Zornitza Stark Phenotypes for gene: COPA were changed from to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Autoinflammatory Disorders v0.66 COPA Zornitza Stark Publications for gene: COPA were set to 31455335; 30804679
Autoinflammatory Disorders v0.65 COPA Zornitza Stark Publications for gene: COPA were set to
Autoinflammatory Disorders v0.64 COPA Zornitza Stark Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.63 COPA Zornitza Stark reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Marked gene: SH3BP2 as ready
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from Cherubism, MIM# 118400 to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.63 SH3BP2 Zornitza Stark Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM# 118400
Autoinflammatory Disorders v0.62 SH3BP2 Zornitza Stark Publications for gene: SH3BP2 were set to
Autoinflammatory Disorders v0.61 SH3BP2 Zornitza Stark Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.60 SH3BP2 Zornitza Stark Classified gene: SH3BP2 as Red List (low evidence)
Autoinflammatory Disorders v0.60 SH3BP2 Zornitza Stark Gene: sh3bp2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.59 SH3BP2 Zornitza Stark reviewed gene: SH3BP2: Rating: RED; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465; Phenotypes: Cherubism, MIM# 118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Marked gene: PSMB9 as ready
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.59 PSMB9 Zornitza Stark Phenotypes for gene: PSMB9 were changed from to Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
Autoinflammatory Disorders v0.58 PSMB9 Zornitza Stark Publications for gene: PSMB9 were set to
Autoinflammatory Disorders v0.57 PSMB9 Zornitza Stark Mode of inheritance for gene: PSMB9 was changed from Unknown to Other
Autoinflammatory Disorders v0.56 PSMB9 Zornitza Stark Classified gene: PSMB9 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.56 PSMB9 Zornitza Stark Gene: psmb9 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB9 Zornitza Stark reviewed gene: PSMB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591; Mode of inheritance: Other
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Marked gene: PSMB4 as ready
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Phenotypes for gene: PSMB4 were changed from to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Autoinflammatory Disorders v0.55 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to 26524591
Autoinflammatory Disorders v0.54 PSMB4 Zornitza Stark Publications for gene: PSMB4 were set to
Autoinflammatory Disorders v0.54 PSMB4 Zornitza Stark Mode of inheritance for gene: PSMB4 was changed from Unknown to Other
Autoinflammatory Disorders v0.53 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.53 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.52 PSMB4 Zornitza Stark reviewed gene: PSMB4: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591; Mode of inheritance: Other
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Marked gene: PSMA3 as ready
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.52 PSMA3 Zornitza Stark Phenotypes for gene: PSMA3 were changed from to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
Autoinflammatory Disorders v0.51 PSMA3 Zornitza Stark Publications for gene: PSMA3 were set to
Autoinflammatory Disorders v0.50 PSMA3 Zornitza Stark Mode of inheritance for gene: PSMA3 was changed from Unknown to Other
Autoinflammatory Disorders v0.49 PSMA3 Zornitza Stark Classified gene: PSMA3 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.49 PSMA3 Zornitza Stark Gene: psma3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.48 PSMA3 Zornitza Stark reviewed gene: PSMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040; Mode of inheritance: Other
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Marked gene: AP1S3 as ready
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.48 AP1S3 Zornitza Stark Phenotypes for gene: AP1S3 were changed from to {Psoriasis 15, pustular, susceptibility to} 616106
Autoinflammatory Disorders v0.47 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to 24791904; 27388993
Autoinflammatory Disorders v0.47 AP1S3 Zornitza Stark Publications for gene: AP1S3 were set to
Autoinflammatory Disorders v0.46 AP1S3 Zornitza Stark Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.45 AP1S3 Zornitza Stark Classified gene: AP1S3 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.45 AP1S3 Zornitza Stark Gene: ap1s3 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.44 AP1S3 Zornitza Stark reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Marked gene: ADAM17 as ready
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Gene: adam17 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.44 ADAM17 Zornitza Stark Phenotypes for gene: ADAM17 were changed from to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections
Autoinflammatory Disorders v0.43 ADAM17 Zornitza Stark Publications for gene: ADAM17 were set to
Autoinflammatory Disorders v0.42 ADAM17 Zornitza Stark Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.41 ADAM17 Zornitza Stark reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Marked gene: HAVCR2 as ready
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Classified gene: HAVCR2 as Green List (high evidence)
Autoinflammatory Disorders v0.41 HAVCR2 Zornitza Stark Gene: havcr2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.40 HAVCR2 Zornitza Stark gene: HAVCR2 was added
gene: HAVCR2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30374066; 30792187
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
Added comment: Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).
Sources: Expert list
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark Marked gene: PSMG2 as ready
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark Gene: psmg2 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.39 PSMG2 Zornitza Stark gene: PSMG2 was added
gene: PSMG2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: PSMG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMG2 were set to 30664889
Phenotypes for gene: PSMG2 were set to CANDLE syndrome; Chronic atypical neutrophilic dermatitis with lipodystrophy
Review for gene: PSMG2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Marked gene: NLRP1 as ready
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Classified gene: NLRP1 as Green List (high evidence)
Autoinflammatory Disorders v0.38 NLRP1 Zornitza Stark Gene: nlrp1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.37 NLRP1 Zornitza Stark gene: NLRP1 was added
gene: NLRP1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NLRP1 were set to 27965258; 31484767; 27662089
Phenotypes for gene: NLRP1 were set to Autoinflammation with arthritis and dyskeratosis, MIM# 617388; Palmoplantar carcinoma, multiple self-healing 615225; Recurrent respiratory papillomatosis
Mode of pathogenicity for gene: NLRP1 was set to Other
Review for gene: NLRP1 was set to GREEN
Added comment: Multiple phenotypes resulting from abnormal inflammatory response associated with this gene, both mono-allelic and bi-allelic, some gain-of-function (including bi-allelic).
Bi-allelic disease: single family with dyskeratosis, autoimmunity and arthritis and another family with bi-allelic GoF and recurrent respiratory papillomatosis phenotype
Mono-allelic disease: mostly pertains to the association with multiple self-healing palmoplantar carcinomas (MSPC). One consanguineous family in which a sister and brother with clinical features of MSPC as well as multiple discrete and semiconfluent lichenoid papules on the arms, legs, and lower trunk were homozygous for an in-frame deletion in the NLRP1 gene, and parents had milder skin defects. The clinical diagnosis in this family was familial keratosis lichenoides chronica (Nekam disease).
Sources: Expert list
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark changed review comment from: Two unrelated families reported.
Sources: Expert list; to: Three unrelated families reported. Note cryptic 3' deletion identified in one.
Sources: Expert list
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark edited their review of gene: USP18: Changed rating: GREEN; Changed phenotypes: Pseudo-TORCH syndrome 2, MIM# 617397
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Marked gene: USP18 as ready
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Classified gene: USP18 as Green List (high evidence)
Autoinflammatory Disorders v0.36 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.35 USP18 Zornitza Stark Classified gene: USP18 as Amber List (moderate evidence)
Autoinflammatory Disorders v0.35 USP18 Zornitza Stark Gene: usp18 has been classified as Amber List (Moderate Evidence).
Autoinflammatory Disorders v0.34 USP18 Zornitza Stark gene: USP18 was added
gene: USP18 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 31940699; 27325888
Phenotypes for gene: USP18 were set to Pseudo-TORCH syndrome 2, MIM# 617397
Review for gene: USP18 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert list
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Tag deep intronic tag was added to gene: POLA1.
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Marked gene: POLA1 as ready
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Classified gene: POLA1 as Green List (high evidence)
Autoinflammatory Disorders v0.33 POLA1 Zornitza Stark Gene: pola1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.32 POLA1 Zornitza Stark gene: POLA1 was added
gene: POLA1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POLA1 were set to 27019227
Phenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220
Review for gene: POLA1 was set to GREEN
Added comment: 12 unrelated families with same g.24744696A-G transition (NC_000023.10, g.24744696A-G) in intron 13 of the POLA1 gene, resulting the introduction of a novel exon (exon 13a) into the transcript. Two of the families shared the same haplotype, indicative of founder effect but rest thought to have arisen independently, including at least one de novo variant.
Sources: Expert list
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Autoinflammatory Disorders v0.31 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.30 ACP5 Zornitza Stark gene: ACP5 was added
gene: ACP5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 26951490; 21217755; 26789720; 26346816
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944; Short stature; SLE, thrombocytopenia and autoimmune haemolytic anaemia; Possibly recurrent bacterial and viral infections
Review for gene: ACP5 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.29 IFIH1 Zornitza Stark Classified gene: IFIH1 as Green List (high evidence)
Autoinflammatory Disorders v0.29 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Red List (Low Evidence).
Autoinflammatory Disorders v0.28 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM# 615846
Review for gene: IFIH1 was set to GREEN
Added comment: Gain of function variants.
Sources: Expert list
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Marked gene: ADAR as ready
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Classified gene: ADAR as Green List (high evidence)
Autoinflammatory Disorders v0.27 ADAR Zornitza Stark Gene: adar has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.26 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010
Review for gene: ADAR was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Classified gene: SAMHD1 as Green List (high evidence)
Autoinflammatory Disorders v0.25 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.24 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, MIM# 612952
Review for gene: SAMHD1 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Classified gene: RNASEH2A as Green List (high evidence)
Autoinflammatory Disorders v0.23 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.22 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, MIM# 610333
Review for gene: RNASEH2A was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Marked gene: RNASEH2C as ready
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Classified gene: RNASEH2C as Green List (high evidence)
Autoinflammatory Disorders v0.21 RNASEH2C Zornitza Stark Gene: rnaseh2c has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.20 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, MIM# 610329
Review for gene: RNASEH2C was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Marked gene: RNASEH2B as ready
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Classified gene: RNASEH2B as Green List (high evidence)
Autoinflammatory Disorders v0.19 RNASEH2B Zornitza Stark Gene: rnaseh2b has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.18 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM# 610181
Review for gene: RNASEH2B was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Classified gene: TREX1 as Green List (high evidence)
Autoinflammatory Disorders v0.17 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.16 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to {Systemic lupus erythematosus, susceptibility to} 152700; Aicardi-Goutieres syndrome 1, dominant and recessive 225750
Review for gene: TREX1 was set to GREEN
Added comment: Sources: Expert list
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark edited their review of gene: TMEM173: Changed phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.15 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.14 TMEM173 Zornitza Stark Classified gene: TMEM173 as Green List (high evidence)
Autoinflammatory Disorders v0.14 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.13 TMEM173 Zornitza Stark gene: TMEM173 was added
gene: TMEM173 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM173 were set to 25401470; 25029335
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM# 615934
Mode of pathogenicity for gene: TMEM173 was set to Other
Review for gene: TMEM173 was set to GREEN
Added comment: Four families reported.
Sources: Expert list
Autoinflammatory Disorders v0.12 Zornitza Stark Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease
Autoinflammatory Disorders v0.10 Sebastian Lunke Panel name changed from Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS to Systemic Autoinflammatory Disease_Periodic Fever
Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Classified gene: DNASE2 as Green List (high evidence)
Autoinflammatory Disorders v0.9 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.8 DNASE2 Zornitza Stark gene: DNASE2 was added
gene: DNASE2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to 29259162; 31775019
Phenotypes for gene: DNASE2 were set to Auto-inflammatory disorder; splenomegaly; glomerulonephritis; liver fibrosis; arthritis; HLH
Review for gene: DNASE2 was set to GREEN
Added comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data.
Sources: Expert list
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Marked gene: DNASE1L3 as ready
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Classified gene: DNASE1L3 as Green List (high evidence)
Autoinflammatory Disorders v0.7 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.6 DNASE1L3 Zornitza Stark gene: DNASE1L3 was added
gene: DNASE1L3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: DNASE1L3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE1L3 were set to 22019780; 30008451
Phenotypes for gene: DNASE1L3 were set to Systemic lupus erythematosus 16, MIM# 614420
Review for gene: DNASE1L3 was set to GREEN
Added comment: Six consanguineous families with paediatric-onset SLE reported initially, same homozygous mutation (founder); additional family identified in literature with different homozygous frameshift.
Sources: Expert list
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Marked gene: TNFRSF1A as ready
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Gene: tnfrsf1a has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from Periodic fever, familial, MIM# 142680 to Periodic fever, familial, MIM# 142680
Autoinflammatory Disorders v0.5 TNFRSF1A Zornitza Stark Phenotypes for gene: TNFRSF1A were changed from to Periodic fever, familial, MIM# 142680
Autoinflammatory Disorders v0.4 TNFRSF1A Zornitza Stark Publications for gene: TNFRSF1A were set to
Autoinflammatory Disorders v0.3 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.2 TNFRSF1A Zornitza Stark Mode of inheritance for gene: TNFRSF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.1 TNFRSF1A Zornitza Stark reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 10199409; Phenotypes: Periodic fever, familial, MIM# 142680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.1 Zornitza Stark Panel name changed from Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_VCGS
Autoinflammatory Disorders v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TRNT1 was set to Unknown
Autoinflammatory Disorders v0.0 TNFRSF1A Zornitza Stark gene: TNFRSF1A was added
gene: TNFRSF1A was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TNFRSF1A was set to Unknown
Autoinflammatory Disorders v0.0 TNFAIP3 Zornitza Stark gene: TNFAIP3 was added
gene: TNFAIP3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TNFAIP3 was set to Unknown
Autoinflammatory Disorders v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SLC29A3 was set to Unknown
Autoinflammatory Disorders v0.0 SH3BP2 Zornitza Stark gene: SH3BP2 was added
gene: SH3BP2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: SH3BP2 was set to Unknown
Autoinflammatory Disorders v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: RBCK1 was set to Unknown
Autoinflammatory Disorders v0.0 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PSTPIP1 was set to Unknown
Autoinflammatory Disorders v0.0 PSMB9 Zornitza Stark gene: PSMB9 was added
gene: PSMB9 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PSMB9 was set to Unknown
Autoinflammatory Disorders v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PSMB8 was set to Unknown
Autoinflammatory Disorders v0.0 PSMB4 Zornitza Stark gene: PSMB4 was added
gene: PSMB4 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PSMB4 was set to Unknown
Autoinflammatory Disorders v0.0 PSMA3 Zornitza Stark gene: PSMA3 was added
gene: PSMA3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PSMA3 was set to Unknown
Autoinflammatory Disorders v0.0 PLCG2 Zornitza Stark gene: PLCG2 was added
gene: PLCG2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PLCG2 was set to Unknown
Autoinflammatory Disorders v0.0 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: OTULIN was set to Unknown
Autoinflammatory Disorders v0.0 NOD2 Zornitza Stark gene: NOD2 was added
gene: NOD2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NOD2 was set to Unknown
Autoinflammatory Disorders v0.0 NLRP3 Zornitza Stark gene: NLRP3 was added
gene: NLRP3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NLRP3 was set to Unknown
Autoinflammatory Disorders v0.0 NLRP12 Zornitza Stark gene: NLRP12 was added
gene: NLRP12 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NLRP12 was set to Unknown
Autoinflammatory Disorders v0.0 NLRC4 Zornitza Stark gene: NLRC4 was added
gene: NLRC4 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NLRC4 was set to Unknown
Autoinflammatory Disorders v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MVK was set to Unknown
Autoinflammatory Disorders v0.0 MEFV Zornitza Stark gene: MEFV was added
gene: MEFV was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MEFV was set to Unknown
Autoinflammatory Disorders v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: LPIN2 was set to Unknown
Autoinflammatory Disorders v0.0 IL36RN Zornitza Stark gene: IL36RN was added
gene: IL36RN was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL36RN was set to Unknown
Autoinflammatory Disorders v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IL1RN was set to Unknown
Autoinflammatory Disorders v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ELANE was set to Unknown
Autoinflammatory Disorders v0.0 COPA Zornitza Stark gene: COPA was added
gene: COPA was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: COPA was set to Unknown
Autoinflammatory Disorders v0.0 CARD14 Zornitza Stark gene: CARD14 was added
gene: CARD14 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CARD14 was set to Unknown
Autoinflammatory Disorders v0.0 AP1S3 Zornitza Stark gene: AP1S3 was added
gene: AP1S3 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: AP1S3 was set to Unknown
Autoinflammatory Disorders v0.0 ADAM17 Zornitza Stark gene: ADAM17 was added
gene: ADAM17 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ADAM17 was set to Unknown
Autoinflammatory Disorders v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ADA2 was set to Unknown
Autoinflammatory Disorders v0.0 Zornitza Stark Added panel Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS