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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