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| Autoinflammatory Disorders v3.3 | SERPINA3 | chirag patel Marked gene: SERPINA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v3.3 | SERPINA3 | chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v3.3 | SERPINA3 | chirag patel Classified gene: SERPINA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v3.3 | SERPINA3 | chirag patel Gene: serpina3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v3.2 | SERPINA3 |
chirag patel gene: SERPINA3 was added gene: SERPINA3 was added to Autoinflammatory Disorders. Sources: Literature Mode of inheritance for gene: SERPINA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SERPINA3 were set to 36828876; 33961311; 31945348 Phenotypes for gene: SERPINA3 were set to Pustular psoriasis, MONDO:0022205 Review for gene: SERPINA3 was set to AMBER Added comment: PMID 31945348, PMID 36828876 and PMID 33961311 report 10 individuals from 8 unrelated families with monoallelic loss‑of‑function SERPINA3 variants causing generalized pustular psoriasis (GPP) spanning childhood‑onset to adult‑onset (1 case with palmoplantar pustular psoriasis (PPP)). Functional studies demonstrate loss of SERPINA3 protein for truncating variants, although rescue or animal‑model data are lacking, and missense alleles often exceed population‑frequency thresholds. Some individuals (5/6) in PMID 36828876 also had variants in other GPP genes that may be causative. Segregation not documented for families. Sources: Literature |
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