Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |