Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IRF3EnsemblGeneIds (GRCh38): ENSG00000126456
EnsemblGeneIds (GRCh37): ENSG00000126456
OMIM: 603734, Gene2Phenotype
IRF3 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IRF3 .PanelApp HGNC gene symbol check: IRF3 . IUIS Disease: IRF3 deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: CNS resident cells and fibroblasts. IUIS Associated features: Herpes simplex virus 1 encephalitis. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Herpes Simplex Encephalitis (HSE)Created: 6 Jul 2018, 12:11 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- IUIS Classification December 2019
- Expert Review Amber
- IUIS Classification February 2018
- Phenotypes
-
- Defects in Intrinsic and Innate Immunity
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532
- Herpes simplex virus 1 encephalitis
- OMIM
- 603734
- Clinvar variants
- Variants in IRF3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Source IUIS Classification December 2019 was added to IRF3. Added phenotypes Herpes simplex virus 1 encephalitis for gene: IRF3 Publications for gene IRF3 were updated from 26216125; 26513235 to 32048120; 26216125; 26513235; 32086639
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: irf3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: IRF3 were set to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532; Herpes simplex virus 1 encephalitis; Defects in Intrinsic and Innate Immunity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: IRF3 were set to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532Herpes simplex virus 1 encephalitis; Defects in Intrinsic and Innate Immunity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: irf3 has been classified as Amber List (Moderate Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: IRF3 were set to 26216125; 26513235
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: IRF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene IRF3 were set to Herpes simplex virus 1 encephalitis, Defects in Intrinsic and Innate Immunity
Added New Source
Louise Daugherty (Genomics England Curator)IRF3 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
Created
Louise Daugherty (Genomics England Curator)IRF3 was created by Louise Daugherty