Primary immunodeficiency
Gene: IRF7
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.
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