Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IRF3
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.
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
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.
Gene: irf3 has been classified as Amber List (Moderate Evidence).
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
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
Gene: irf3 has been classified as Amber List (Moderate Evidence).
Publications for gene: IRF3 were set to 26216125; 26513235
Mode of inheritance for gene: IRF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene IRF3 were set to Herpes simplex virus 1 encephalitis, Defects in Intrinsic and Innate Immunity
IRF3 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
IRF3 was created by Louise Daugherty