Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: IRF7
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 12:54 p.m. | Last Modified: 11 Oct 2023, 12:54 p.m.
Panel Version: 4.37
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 7 families reported. Individuals with biallelic variants in the IRF7 gene appear more prone to viral infections of the respiratory tract.Created: 17 May 2023, 3:53 p.m. | Last Modified: 17 May 2023, 3:53 p.m.
Panel Version: 4.17
7 families in total reported. Enough evidence for green classification.Created: 29 Nov 2022, 10:53 a.m. | Last Modified: 29 Nov 2022, 10:53 a.m.
Panel Version: 2.582
In review 35986347 report on study + a case with severe COVID and biallelic IRF7 variant.Created: 30 Aug 2022, 6:54 p.m. | Last Modified: 30 Aug 2022, 6:54 p.m.
Panel Version: 2.574
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe influenza
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IRF7 .PanelApp HGNC gene symbol check: IRF7 . IUIS Disease: IRF7 deficiency . IUIS Inheritance: AR .T cells: Normal or decreased CD4 numbers, T cell dysregulation, .B cells: N/A, .IUIS Other affected cells: Leukocytes, plasmacytoid dendritic cells, Non-hematopoietic cells. IUIS Associated features: Severe influenza disease . IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Predisposition to Severe Viral InfectionCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Keep Amber until more info on gene and disease association, Interferon regulation shown in one family (two affecteds), request evidences from GRID and Victorian Clinical Genetics ServicesCreated: 21 Jun 2018, 9:58 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Amber- only one family, two casesCreated: 21 Jun 2018, 9:31 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: IRF7, GRID_Gene_Symbol: IRF7, GRID_Transcript_ENS_Community submitted: ENST00000397566, GRID_Transcript_RefSeq: NM_001572.3, GRID_Transcript_ENS_used_on_Production: ENST00000397566Created: 17 Apr 2018, 12:12 p.m.
Tag Q2_23_promote_green was removed from gene: IRF7.
Source Expert Review Green was added to IRF7. Source NHS GMS was added to IRF7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: irf7 has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: IRF7.
Phenotypes for gene: IRF7 were changed from Severe influenza; Defects in Intrinsic and Innate Immunity; IRF7 deficiency; ?Immunodeficiency 39, 616345; Severe influenza disease to Immunodeficiency 39 , OMIM:616345
Source IUIS Classification December 2019 was added to IRF7. Added phenotypes Severe influenza disease for gene: IRF7 Publications for gene IRF7 were updated from 25814066; 26761402; 9315633 to 26761402; 25814066; 9315633; 32048120; 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.
Phenotypes for gene IRF7 were set to IRF7 deficiency, Severe influenza, ?Immunodeficiency 39, 616345, Severe influenza disease, Defects in Intrinsic and Innate Immunity
IUIS Classification February 2018 was added to IRF7. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to IRF7. Panel: Primary immunodeficiency disorders
Gene: irf7 has been classified as Amber List (Moderate Evidence).
Publications for gene: IRF7 were set to 25814066; 26761402; 9315633
Gene: irf7 has been classified as Amber List (Moderate Evidence).
Publications for gene: IRF7 were set to 25814066; 26761402
Publications for gene: IRF7 were set to 25814066
Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRF7 were set to IRF7 deficiency; Severe influenza; ?Immunodeficiency 39, 616345
Expert Review Amber was added to IRF7. Panel: Primary immunodeficiency disorders
Phenotypes for gene IRF7 were set to IRF7 deficiency
IRF7 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
IRF7 was created by Louise Daugherty