Autoinflammatory Disorders
Gene: DDX58EnsemblGeneIds (GRCh38): ENSG00000107201
EnsemblGeneIds (GRCh37): ENSG00000107201
OMIM: 609631, Gene2Phenotype
DDX58 is in 3 panels
1 review
Chirag Patel (Genetic Health Queensland)
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: LiteratureCreated: 26 Oct 2023, 2:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lupus Nephritis
Publications
- PMID: 36261300
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Lupus Nephritis, MONDO:0005556, DDX58-related
- OMIM
- 609631
- Clinvar variants
- Variants in DDX58
- Penetrance
- None
- Publications
-
- PMID: 36261300
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ddx58 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DDX58 were changed from Lupus Nephritis to Lupus Nephritis, MONDO:0005556, DDX58-related
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ddx58 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: ddx58 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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