Activity
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12 actions
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| Autoinflammatory disorders v3.21 | PSMB8 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: PSMB8 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.20 | PSMB8 | Achchuthan Shanmugasundram edited their review of gene: PSMB8: Changed mode of pathogenicity: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.20 | PSMB8 |
Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available (>10 unrelated families and functional work) for the association of monoallelic PSMB8 variants with proteasome-associated autoinflammatory syndrome and immunodeficiency. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update. |
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| Autoinflammatory disorders v3.20 | PSMB8 | Achchuthan Shanmugasundram Mode of inheritance for gene: PSMB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.19 | PSMB8 | Achchuthan Shanmugasundram Phenotypes for gene: PSMB8 were changed from Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; proteasome-associated autoinflammatory syndrome 1, MONDO:0054698; Immunodeficiency, HP:0002721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.18 | PSMB8 | Achchuthan Shanmugasundram Publications for gene: PSMB8 were set to 21852578; 21953331; 20534754; 20159315; 21881205; 21129723 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.17 | PSMB8 | Achchuthan Shanmugasundram Tag Q3_26_MOI tag was added to gene: PSMB8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v3.17 | PSMB8 | Achchuthan Shanmugasundram reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 41253591, 42167218; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040, proteasome-associated autoinflammatory syndrome 1, MONDO:0054698, Immunodeficiency, HP:0002721; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.36 | PSMB8 | Arina Puzriakova Tag digenic tag was added to gene: PSMB8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.36 | PSMB8 | Arina Puzriakova reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v0.22 | PSMB8 | Arina Puzriakova Source NHS GMS was added to PSMB8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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