| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Systemic Autoinflammatory Disease_Periodic Fever v1.22 | DDX58 | Zornitza Stark Marked gene: DDX58 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.22 | DDX58 | Zornitza Stark Gene: ddx58 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.22 | DDX58 | Zornitza Stark Phenotypes for gene: DDX58 were changed from Lupus Nephritis to Lupus Nephritis, MONDO:0005556, DDX58-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.21 | DDX58 | Chirag Patel Classified gene: DDX58 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.21 | DDX58 | Chirag Patel Gene: ddx58 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.21 | DDX58 | Chirag Patel Classified gene: DDX58 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.21 | DDX58 | Chirag Patel Gene: ddx58 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Systemic Autoinflammatory Disease_Periodic Fever v1.20 | DDX58 |
Chirag Patel gene: DDX58 was added gene: DDX58 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX58 were set to PMID: 36261300 Phenotypes for gene: DDX58 were set to Lupus Nephritis Review for gene: DDX58 was set to GREEN gene: DDX58 was marked as current diagnostic Added comment: WES in cohort of lupus nephritis patients found a novel DDX58 pathogenic variant (R109C) in 5 unrelated families. The DDX58 R109C variant is a gain-of-function mutation, elevating type I IFN signaling due to reduced autoinhibition, which leads to RIG-I hyperactivation, increased RIG-I K63 ubiquitination, and MAVS aggregation. Transcriptome analysis revealed an increased IFN signature in patient monocytes. Initiation of JAK inhibitor therapy (baricitinib 2 mg/d) effectively suppressed the IFN signal in one patient. Sources: Literature |
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