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| Autoinflammatory Disorders v1.10 | DPP9 | Zornitza Stark Mode of inheritance for gene: DPP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.9 | DPP9 | Peter McNaughton edited their review of gene: DPP9: Added comment: de novo monoallelic dominant-negative mutation in DPP9 (c.755G>C, R252P) presenting with HLH at ~2m. Functional data supporting dominant negative mechanism.; Changed publications: PMID: 37544411; Changed phenotypes: HLH; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.4 | DPP9 | Sarah Pantaleo reviewed gene: DPP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36112693; Phenotypes: Hatipoglu immunodeficiency syndrome MIM#620331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.166 | DPP9 | Zornitza Stark Marked gene: DPP9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.166 | DPP9 | Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.166 | DPP9 | Zornitza Stark Phenotypes for gene: DPP9 were changed from recurrent fevers; repeated infections; herpes susceptibility; cytopaenias to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopaenias | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.165 | DPP9 | Zornitza Stark Classified gene: DPP9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.165 | DPP9 | Zornitza Stark Gene: dpp9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v0.164 | DPP9 |
Peter McNaughton gene: DPP9 was added gene: DPP9 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPP9 were set to PMID: 36112693 Phenotypes for gene: DPP9 were set to recurrent fevers; repeated infections; herpes susceptibility; cytopaenias Review for gene: DPP9 was set to GREEN Added comment: Three unrelated families with Hatipoğlu syndrome with biochemical and cellular assays, mouse and zebrafish models. Immunological features of recurrent fevers, repeated infections, herpes susceptibility, cytopaenias. Sources: Literature |
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