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Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Tag watchlist tag was added to gene: IL17RA.
Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Classified gene: IL17RA as Amber List (moderate evidence)
Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants have been found patients with immunodeficiency, presenting as chronic mucocutaneous candidiasis (PMID: 21350122).

Interleukin-17A (IL-17A) is a pro-inflammatory cytokine implicated in diverse autoimmune and inflammatory disorders such as psoriasis and Kawasaki disease so it is plausible that the interleukin-17A receptor (IL-17RA) could contribute to the same pathway.

Literature review did reveal multiple mouse models where IL-17RA was shown to promote the inflammatory response (PMID: 38060620; 30364284; 35844540; 38451335); however, there is no evidence of human cases where a variant in the IL17RA gene caused an autoinflammatory disorder. Therefore rating as Amber with a watchlist tag, awaiting further evidence.
Autoinflammatory disorders v1.17 IL17RA Arina Puzriakova Gene: il17ra has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v1.16 IL17RA Arina Puzriakova Phenotypes for gene: IL17RA were changed from Immunodeficiency-51 to Immunodeficiency 51, OMIM:613953
Autoinflammatory disorders v1.15 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from T(-), B(-), NK(-) severe combin immunodeficiency to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Autoinflammatory disorders v1.14 GP6 Arina Puzriakova Phenotypes for gene: GP6 were changed from Platlet-type bleeding disorder-11 to Bleeding disorder, platelet-type, 11, OMIM:614201
Autoinflammatory disorders v1.13 GP6 Arina Puzriakova Classified gene: GP6 as Red List (low evidence)
Autoinflammatory disorders v1.13 GP6 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with bleeding disorder caused by defective platelet activation and aggregation in response to collagen. Could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panel
Autoinflammatory disorders v1.13 GP6 Arina Puzriakova Gene: gp6 has been classified as Red List (Low Evidence).
Autoinflammatory disorders v1.12 ADA Arina Puzriakova Classified gene: ADA as Red List (low evidence)
Autoinflammatory disorders v1.12 ADA Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with partial ADA deficiency or severe combined immunodeficiency (SCID) due to ADA deficiency with multiple unrelated cases reported.

Despite ADA null mice displaying severe pulmonary inflammation, could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panel
Autoinflammatory disorders v1.12 ADA Arina Puzriakova Gene: ada has been classified as Red List (Low Evidence).
Autoinflammatory disorders v1.11 UBA1 Arina Puzriakova Publications for gene: UBA1 were set to 33108101; 33690815; 34048852; 34077651; 34196684
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: UBA1.
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Classified gene: UBA1 as Green List (high evidence)
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Added comment: Comment on list classification: Following further discussions with the GMS specialist group, it was agreed that the coverage of this test does include somatic variant detection. Therefore, the rating of this gene has been updated to green and the mode of inheritance set to "Other" following NHS Genomic Medicine Service approval.
Autoinflammatory disorders v1.10 UBA1 Arina Puzriakova Gene: uba1 has been classified as Green List (High Evidence).
Autoinflammatory disorders v1.9 UBA1 Arina Puzriakova Mode of pathogenicity for gene: UBA1 was changed from to Other
Autoinflammatory disorders v1.8 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova changed review comment from: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.; to: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find strong evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova Classified gene: SEC23B as Red List (low evidence)
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with congenital dyserythropoietic anemia (CDA) type II with multiple unrelated cases reported. These defective erythroblasts cannot develop into functional mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia, as well as complications including an enlarged liver and spleen (hepatosplenomegaly) and an abnormal buildup of iron that can damage the body's organs. Could not find evidence of an autoinflammatory component of this disorder and therefore rating as red on this panel.
Autoinflammatory disorders v1.7 SEC23B Arina Puzriakova Gene: sec23b has been classified as Red List (Low Evidence).
Autoinflammatory disorders v1.6 PRF1 Arina Puzriakova Publications for gene: PRF1 were set to 32098966
Autoinflammatory disorders v1.5 PRF1 Arina Puzriakova Classified gene: PRF1 as Amber List (moderate evidence)
Autoinflammatory disorders v1.5 PRF1 Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with
Hemophagocytic Lymphohistiocytosis (HLH) with multiple unrelated cases reported. This is a hyperinflammatory disorder which leads to to impaired function of cytotoxic T cells and NK cells, consistent with a defect in cellular cytotoxicity. Acquired HLH can be caused by autoinflammatory and autoimmune diseases; however, familial HLH caused by biallelic variants in this gene do not necessarily cause autoinflammation.

For this reason, rating this gene:disease association as amber on this panel. Cases should be picked up via the 'R15 Primary immunodeficiency or monogenic inflammatory bowel disease' panel, where it is already green.
Autoinflammatory disorders v1.5 PRF1 Arina Puzriakova Gene: prf1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v1.4 PRF1 Arina Puzriakova Phenotypes for gene: PRF1 were changed from Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553) to Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Autoinflammatory disorders v1.1 UBA1 Dorota Rowczenio reviewed gene: UBA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33108101, 36823397, 34048852, 34213531, 34340250, 33930131, 34802547, 37501758, 37223371, 36692560, 33789873, 33779074; Phenotypes: ever, chondritis, vasculitis, neutrophilic dermatosis, sterile alveolitis, progressive bone marrow failure, cytopenia; Mode of inheritance: Other; Current diagnostic: yes
Autoinflammatory disorders v1.1 SEC23B Lauma Freimane gene: SEC23B was added
gene: SEC23B was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 32098966
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II
Review for gene: SEC23B was set to GREEN
Added comment: Sources: Literature
Autoinflammatory disorders v1.1 PRF1 Lauma Freimane gene: PRF1 was added
gene: PRF1 was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 32098966
Phenotypes for gene: PRF1 were set to Familial hemophagocytic lymphohistiocytosis-2 (FHL2) (OMIM: 603553)
Autoinflammatory disorders v1.1 GP6 Lauma Freimane gene: GP6 was added
gene: GP6 was added to Autoinflammatory disorders. Sources: Expert Review,Literature
Mode of inheritance for gene: GP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GP6 were set to 32098966
Phenotypes for gene: GP6 were set to Platlet-type bleeding disorder-11
Review for gene: GP6 was set to GREEN
Added comment: Sources: Expert Review, Literature
Autoinflammatory disorders v1.1 IL17RA Lauma Freimane gene: IL17RA was added
gene: IL17RA was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL17RA were set to 32098966
Phenotypes for gene: IL17RA were set to Immunodeficiency-51
Review for gene: IL17RA was set to GREEN
Added comment: Sources: Literature
Autoinflammatory disorders v1.1 ADA Lauma Freimane gene: ADA was added
gene: ADA was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 32098966
Phenotypes for gene: ADA were set to T(-), B(-), NK(-) severe combin immunodeficiency
Review for gene: ADA was set to GREEN
Added comment: Sources: Literature
Autoinflammatory disorders v1.1 Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off
Panel version 1.0 has been signed off on 2022-11-30
Autoinflammatory disorders v1.0 Catherine Snow promoted panel to version 1.0
Autoinflammatory disorders v0.37 Eleanor Williams Panel status changed from internal to public
Autoinflammatory disorders v0.36 PSMB8 Arina Puzriakova Tag digenic tag was added to gene: PSMB8.
Autoinflammatory disorders v0.36 PSMB9 Arina Puzriakova Tag digenic tag was added to gene: PSMB9.
Autoinflammatory disorders v0.36 ADA2 Arina Puzriakova reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 CARD14 Arina Puzriakova reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 TNFAIP3 Arina Puzriakova reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 TMEM173 Arina Puzriakova reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 TNFRSF1A Arina Puzriakova reviewed gene: TNFRSF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 SLC29A3 Arina Puzriakova reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 SH3BP2 Arina Puzriakova edited their review of gene: SH3BP2: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN
Autoinflammatory disorders v0.36 RBCK1 Arina Puzriakova reviewed gene: RBCK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 PSTPIP1 Arina Puzriakova reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 PSMB9 Arina Puzriakova edited their review of gene: PSMB9: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN
Autoinflammatory disorders v0.36 PSMB8 Arina Puzriakova reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 PSMB4 Arina Puzriakova edited their review of gene: PSMB4: Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green.; Changed rating: GREEN
Autoinflammatory disorders v0.36 PLCG2 Arina Puzriakova reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 OTULIN Arina Puzriakova reviewed gene: OTULIN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NOD2 Arina Puzriakova reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NLRP3 Arina Puzriakova reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NLRP12 Arina Puzriakova reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 NLRC4 Arina Puzriakova reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 MVK Arina Puzriakova reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 MEFV Arina Puzriakova reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 LPIN2 Arina Puzriakova reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 IL36RN Arina Puzriakova reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.36 IL1RN Arina Puzriakova reviewed gene: IL1RN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Autoinflammatory disorders v0.35 SH3BP2 Arina Puzriakova Classified gene: SH3BP2 as Green List (high evidence)
Autoinflammatory disorders v0.35 SH3BP2 Arina Puzriakova Gene: sh3bp2 has been classified as Green List (High Evidence).
Autoinflammatory disorders v0.34 PSMB9 Arina Puzriakova Classified gene: PSMB9 as Green List (high evidence)
Autoinflammatory disorders v0.34 PSMB9 Arina Puzriakova Gene: psmb9 has been classified as Green List (High Evidence).
Autoinflammatory disorders v0.33 PSMB4 Arina Puzriakova Classified gene: PSMB4 as Green List (high evidence)
Autoinflammatory disorders v0.33 PSMB4 Arina Puzriakova Gene: psmb4 has been classified as Green List (High Evidence).
Autoinflammatory disorders v0.32 UBA1 Arina Puzriakova commented on gene: UBA1: Added 'to_be_confirmed_NHSE' tag - gene to be further discussed due to somatic pathogenesis
Autoinflammatory disorders v0.32 UBA1 Arina Puzriakova Tag to_be_confirmed_NHSE tag was added to gene: UBA1.
Autoinflammatory disorders v0.32 UBA1 Arina Puzriakova Source NHS GMS was added to UBA1.
Autoinflammatory disorders v0.31 SH3BP2 Arina Puzriakova Source NHS GMS was added to SH3BP2.
Autoinflammatory disorders v0.30 PSMB9 Arina Puzriakova Source NHS GMS was added to PSMB9.
Autoinflammatory disorders v0.29 PSMB4 Arina Puzriakova Source NHS GMS was added to PSMB4.
Autoinflammatory disorders v0.28 TNFRSF1A Arina Puzriakova Source NHS GMS was added to TNFRSF1A.
Autoinflammatory disorders v0.27 TNFAIP3 Arina Puzriakova Source NHS GMS was added to TNFAIP3.
Autoinflammatory disorders v0.26 TMEM173 Arina Puzriakova Source NHS GMS was added to TMEM173.
Autoinflammatory disorders v0.25 SLC29A3 Arina Puzriakova Source NHS GMS was added to SLC29A3.
Autoinflammatory disorders v0.24 RBCK1 Arina Puzriakova Source NHS GMS was added to RBCK1.
Autoinflammatory disorders v0.23 PSTPIP1 Arina Puzriakova Source NHS GMS was added to PSTPIP1.
Autoinflammatory disorders v0.22 PSMB8 Arina Puzriakova Source NHS GMS was added to PSMB8.
Autoinflammatory disorders v0.21 PLCG2 Arina Puzriakova Source NHS GMS was added to PLCG2.
Autoinflammatory disorders v0.20 OTULIN Arina Puzriakova Source NHS GMS was added to OTULIN.
Autoinflammatory disorders v0.19 NOD2 Arina Puzriakova Source NHS GMS was added to NOD2.
Autoinflammatory disorders v0.18 NLRP3 Arina Puzriakova Source NHS GMS was added to NLRP3.
Autoinflammatory disorders v0.17 NLRP12 Arina Puzriakova Source NHS GMS was added to NLRP12.
Autoinflammatory disorders v0.16 NLRC4 Arina Puzriakova Source NHS GMS was added to NLRC4.
Autoinflammatory disorders v0.15 MVK Arina Puzriakova Source NHS GMS was added to MVK.
Autoinflammatory disorders v0.14 MEFV Arina Puzriakova Source NHS GMS was added to MEFV.
Autoinflammatory disorders v0.13 LPIN2 Arina Puzriakova Source NHS GMS was added to LPIN2.
Autoinflammatory disorders v0.12 IL36RN Arina Puzriakova Source NHS GMS was added to IL36RN.
Autoinflammatory disorders v0.11 IL1RN Arina Puzriakova Source NHS GMS was added to IL1RN.
Autoinflammatory disorders v0.10 CARD14 Arina Puzriakova Source NHS GMS was added to CARD14.
Autoinflammatory disorders v0.9 ADA2 Arina Puzriakova Source NHS GMS was added to ADA2.
Autoinflammatory disorders v0.8 UBA1 Arina Puzriakova Publications for gene: UBA1 were set to 34048852; 33108101
Autoinflammatory disorders v0.7 UBA1 Arina Puzriakova reviewed gene: UBA1: Rating: ; Mode of pathogenicity: None; Publications: 33108101, 33690815, 34048852, 34077651, 34196684; Phenotypes: VEXAS syndrome, somatic, OMIM:301054; Mode of inheritance: None
Autoinflammatory disorders v0.7 UBA1 Arina Puzriakova Tag somatic tag was added to gene: UBA1.
Autoinflammatory disorders v0.7 SH3BP2 Arina Puzriakova Publications for gene: SH3BP2 were set to 25705883; 25220465; 26152156; 25470448
Autoinflammatory disorders v0.6 SH3BP2 Arina Puzriakova reviewed gene: SH3BP2: Rating: ; Mode of pathogenicity: None; Publications: 26152156, 25705883, 25470448, 25220465, 32825821; Phenotypes: Cherubism, OMIM:118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autoinflammatory disorders v0.6 PSMB9 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from biallelic to monoallelic as all cases reported to date have harboured heterozygous variants in this gene (PMID: 26524591; 33727065; 34819510)
Autoinflammatory disorders v0.6 PSMB9 Arina Puzriakova Mode of inheritance for gene: PSMB9 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autoinflammatory disorders v0.5 PSMB9 Arina Puzriakova Publications for gene: PSMB9 were set to 26524591; 33727065
Autoinflammatory disorders v0.4 PSMB9 Arina Puzriakova reviewed gene: PSMB9: Rating: ; Mode of pathogenicity: None; Publications: 26524591, 33727065, 34819510; Phenotypes: Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Autoinflammatory disorders v0.4 PSMB4 Arina Puzriakova reviewed gene: PSMB4: Rating: ; Mode of pathogenicity: None; Publications: 34416217, 26524591; Phenotypes: Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autoinflammatory disorders v0.4 PSMB4 Arina Puzriakova Tag digenic tag was added to gene: PSMB4.
Autoinflammatory disorders v0.4 TMEM173 Arina Puzriakova Tag new-gene-name tag was added to gene: TMEM173.
Autoinflammatory disorders v0.4 Arina Puzriakova List of related panels changed from to R413
Autoinflammatory disorders v0.3 ADA2 Arina Puzriakova gene: ADA2 was added
gene: ADA2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 24552285; 29564582; 27059682; 24552284; 26922074; 27444081
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Autoinflammatory disorders v0.3 CARD14 Arina Puzriakova gene: CARD14 was added
gene: CARD14 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: CARD14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CARD14 were set to 29980436; 22521418; 22703878; 29704870; 23648549; 23067081; 29689250; 23711932; 30248356
Phenotypes for gene: CARD14 were set to Psoriasis 2, OMIM:602723; Pityriasis rubra pilaris, OMIM:173200
Autoinflammatory disorders v0.3 UBA1 Arina Puzriakova gene: UBA1 was added
gene: UBA1 was added to Autoinflammatory disorders. Sources: Expert Review Red
Mode of inheritance for gene: UBA1 was set to Other
Publications for gene: UBA1 were set to 34048852; 33108101
Phenotypes for gene: UBA1 were set to VEXAS syndrome, somatic, OMIM:301054
Autoinflammatory disorders v0.3 TNFAIP3 Arina Puzriakova gene: TNFAIP3 was added
gene: TNFAIP3 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: TNFAIP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFAIP3 were set to 29317407; 29572183; 27845235; 28659290; 31164164; 26642243
Phenotypes for gene: TNFAIP3 were set to Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744
Autoinflammatory disorders v0.3 TMEM173 Arina Puzriakova gene: TMEM173 was added
gene: TMEM173 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM173 were set to 25401470; 29491158; 29425920; 30705050; 25029335; 29976662
Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, OMIM:615934
Autoinflammatory disorders v0.3 TNFRSF1A Arina Puzriakova gene: TNFRSF1A was added
gene: TNFRSF1A was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: TNFRSF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF1A were set to 10199409; 10902757; 23965844; 12209523; 17360963; 11175303; 11115159
Phenotypes for gene: TNFRSF1A were set to Periodic fever, familial, OMIM:142680
Autoinflammatory disorders v0.3 SLC29A3 Arina Puzriakova gene: SLC29A3 was added
gene: SLC29A3 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 22238637; 18940313; 20619369; 20140240; 19336477; 16650224; 23530176; 22653152; 16118898; 22875837; 21888995; 19175903; 21178579
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Autoinflammatory disorders v0.3 SH3BP2 Arina Puzriakova gene: SH3BP2 was added
gene: SH3BP2 was added to Autoinflammatory disorders. Sources: Expert Review Red
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SH3BP2 were set to 25705883; 25220465; 26152156; 25470448
Phenotypes for gene: SH3BP2 were set to Cherubism, OMIM:118400
Autoinflammatory disorders v0.3 RBCK1 Arina Puzriakova gene: RBCK1 was added
gene: RBCK1 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBCK1 were set to 23798481; 610924; 23104095; 29260357
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Autoinflammatory disorders v0.3 PSTPIP1 Arina Puzriakova gene: PSTPIP1 was added
gene: PSTPIP1 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSTPIP1 were set to 29575118; 28960754; 28251506; 26025129; 9212761; 21532836; 28628471; 22161697
Phenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
Autoinflammatory disorders v0.3 PSMB9 Arina Puzriakova gene: PSMB9 was added
gene: PSMB9 was added to Autoinflammatory disorders. Sources: Expert Review Amber
Mode of inheritance for gene: PSMB9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB9 were set to 26524591; 33727065
Phenotypes for gene: PSMB9 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591
Autoinflammatory disorders v0.3 PSMB8 Arina Puzriakova gene: PSMB8 was added
gene: PSMB8 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB8 were set to 21852578; 21953331; 20534754; 20159315; 21881205; 21129723
Phenotypes for gene: PSMB8 were set to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Autoinflammatory disorders v0.3 PSMB4 Arina Puzriakova gene: PSMB4 was added
gene: PSMB4 was added to Autoinflammatory disorders. Sources: Expert Review Amber
Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB4 were set to 34416217; 26524591
Phenotypes for gene: PSMB4 were set to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome); Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591
Autoinflammatory disorders v0.3 PLCG2 Arina Puzriakova gene: PLCG2 was added
gene: PLCG2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLCG2 were set to 29538758; 22236196; 23000145; 25760457
Phenotypes for gene: PLCG2 were set to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878; Familial cold autoinflammatory syndrome 3, OMIM:614468
Autoinflammatory disorders v0.3 OTULIN Arina Puzriakova gene: OTULIN was added
gene: OTULIN was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTULIN were set to 27559085; 27523608
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Autoinflammatory disorders v0.3 NOD2 Arina Puzriakova gene: NOD2 was added
gene: NOD2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NOD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOD2 were set to 11385576; 25136265; 19479837; 25416713; 21914217; 26070941
Phenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600; Blau syndrome, OMIM:186580; {Yao syndrome}, OMIM:617321
Autoinflammatory disorders v0.3 NLRP3 Arina Puzriakova gene: NLRP3 was added
gene: NLRP3 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NLRP3 were set to 11687797; 18423104; 11992256; 14872505; 29366613; 11590390; 12032915; 12522564; 28847925
Phenotypes for gene: NLRP3 were set to Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772; Familial cold inflammatory syndrome 1, OMIM:120100; Muckle-Wells syndrome, OMIM:191900; CINCA syndrome, OMIM:607115
Autoinflammatory disorders v0.3 NLRP12 Arina Puzriakova gene: NLRP12 was added
gene: NLRP12 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NLRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NLRP12 were set to 21360512; 27779193; 27633793; 29178652; 18230725; 29248470
Phenotypes for gene: NLRP12 were set to Familial cold autoinflammatory syndrome 2, OMIM:611762
Autoinflammatory disorders v0.3 NLRC4 Arina Puzriakova gene: NLRC4 was added
gene: NLRC4 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: NLRC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NLRC4 were set to 27876626; 25217959; 25385754; 25217960
Phenotypes for gene: NLRC4 were set to Autoinflammation with infantile enterocolitis, OMIM:616050; ?Familial cold autoinflammatory syndrome 4, OMIM:616115
Autoinflammatory disorders v0.3 MVK Arina Puzriakova gene: MVK was added
gene: MVK was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 21708801; 16435210; 22038276; 10369261; 19011501
Phenotypes for gene: MVK were set to Mevalonic aciduria, OMIM:610377; Hyper-IgD syndrome, OMIM:260920
Autoinflammatory disorders v0.3 MEFV Arina Puzriakova gene: MEFV was added
gene: MEFV was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: MEFV was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MEFV were set to 27030597; 9288094; 28835462; 14679589; 9288758; 10787449
Phenotypes for gene: MEFV were set to Familial Mediterranean fever, AR, OMIM:249100; Neutrophilic dermatosis, acute febrile, OMIM:608068; Familial Mediterranean fever, AD, OMIM:134610
Autoinflammatory disorders v0.3 LPIN2 Arina Puzriakova gene: LPIN2 was added
gene: LPIN2 was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 17330256; 27860302; 15994876; 29387759
Phenotypes for gene: LPIN2 were set to Majeed syndrome, OMIM:609628
Autoinflammatory disorders v0.3 IL36RN Arina Puzriakova gene: IL36RN was added
gene: IL36RN was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: IL36RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL36RN were set to 23698098; 21839423; 21848462; 23303454; 22903787
Phenotypes for gene: IL36RN were set to Psoriasis 14, pustular, OMIM:614204
Autoinflammatory disorders v0.3 IL1RN Arina Puzriakova gene: IL1RN was added
gene: IL1RN was added to Autoinflammatory disorders. Sources: Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL1RN were set to 22127713; 19494219; 19494218
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Autoinflammatory disorders v0.0 Arina Puzriakova Added Panel Autoinflammatory disorders
Set panel types to: GMS Rare Disease