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Systemic Autoinflammatory Disease_Periodic Fever v1.47 JAK1 Zornitza Stark Marked gene: JAK1 as ready
Systemic Autoinflammatory Disease_Periodic Fever v1.47 JAK1 Zornitza Stark Gene: jak1 has been classified as Green List (High Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v1.47 JAK1 Zornitza Stark Classified gene: JAK1 as Green List (high evidence)
Systemic Autoinflammatory Disease_Periodic Fever v1.47 JAK1 Zornitza Stark Gene: jak1 has been classified as Green List (High Evidence).
Systemic Autoinflammatory Disease_Periodic Fever v1.46 JAK1 Zornitza Stark gene: JAK1 was added
gene: JAK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature
Mode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAK1 were set to 38563820; 28111307
Phenotypes for gene: JAK1 were set to Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Review for gene: JAK1 was set to GREEN
Added comment: PMID 38563820: 59 individuals presenting with autoimmunity, atopy, colitis, and/or dermatitis and one of four JAK1 variants.
Sources: Literature