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Autoinflammatory Disorders v1.56 | ATAD3A | Bryony Thompson Marked gene: ATAD3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v1.56 | ATAD3A | Bryony Thompson Gene: atad3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v1.56 | ATAD3A | Bryony Thompson Classified gene: ATAD3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v1.56 | ATAD3A | Bryony Thompson Gene: atad3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autoinflammatory Disorders v1.55 | ATAD3A |
Bryony Thompson gene: ATAD3A was added gene: ATAD3A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATAD3A were set to 34387651 Phenotypes for gene: ATAD3A were set to inborn error of immunity MONDO:0003778; Harel-Yoon syndrome MONDO:0014958 Review for gene: ATAD3A was set to GREEN gene: ATAD3A was marked as current diagnostic Added comment: Elevated interferon-stimulated gene expression and increased serum type 1 IFNs were identified in both cases with monoallelic and biallelic variants. Classified as an inborn error of immunity (type 1 interferonopathy) by IUIS in the July 2024 IEI update. Sources: Expert list |