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Primary immunodeficiency

Gene: IRF7

Amber List (moderate evidence)

IRF7 (interferon regulatory factor 7)
EnsemblGeneIds (GRCh38): ENSG00000185507
EnsemblGeneIds (GRCh37): ENSG00000185507
OMIM: 605047, Gene2Phenotype
IRF7 is in 5 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe influenza

Publications

Louise Daugherty (Genomics England Curator)

I don't know

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 Infection
Created: 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 Services
Created: 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 cases
Created: 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: ENST00000397566
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • GRID V2.0
Phenotypes
  • Severe influenza
  • Defects in Intrinsic and Innate Immunity
  • IRF7 deficiency
  • ?Immunodeficiency 39, 616345
  • Severe influenza disease
OMIM
605047
Clinvar variants
Variants in IRF7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 2

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.

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IRF7 were set to IRF7 deficiency, Severe influenza, ?Immunodeficiency 39, 616345, Severe influenza disease, Defects in Intrinsic and Innate Immunity

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to IRF7. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to IRF7. Panel: Primary immunodeficiency disorders

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: irf7 has been classified as Amber List (Moderate Evidence).

21 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IRF7 were set to 25814066; 26761402; 9315633

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: irf7 has been classified as Amber List (Moderate Evidence).

21 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IRF7 were set to 25814066; 26761402

21 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IRF7 were set to 25814066

21 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IRF7 were set to IRF7 deficiency; Severe influenza; ?Immunodeficiency 39, 616345

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to IRF7. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IRF7 were set to IRF7 deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IRF7 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IRF7 was created by Louise Daugherty