Activity
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| 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 |
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