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COVID-19 research

Gene: IRF2BP2

Green List (high evidence)
IRF2BP2 (interferon regulatory factor 2 binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000168264
EnsemblGeneIds (GRCh37): ENSG00000168264
OMIM: 615332, Gene2Phenotype
IRF2BP2 is in 2 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Although this gene has been reviewed red by two reviewers, and a search of the literature still finds only one reported case in which variants in this gene have been associated with a immunodeficiency disorder (PMID: 27016798 Keller et al 2016), this gene is listed in the 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee paper (PMID: 31953710 Tangye et al 2020) and so will be rated as green for now.
Created: 8 Apr 2020, 8:29 a.m. | Last Modified: 8 Apr 2020, 8:29 a.m.
Panel Version: 0.62
Created: 8 Apr 2020, 8:29 a.m.
Last Modified: 8 Apr 2020, 8:29 a.m.
Panel version: 0.62

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported only.
Created: 5 Apr 2020, 1:41 a.m. | Last Modified: 5 Apr 2020, 1:41 a.m.
Panel Version: 0.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 14, MIM# 617765

Publications

Created: 5 Apr 2020, 1:41 a.m.
Last Modified: 5 Apr 2020, 1:41 a.m.
Panel version: 0.44

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications suggested from external expert review to support gene-disease association
Created: 6 Jul 2018, 12:55 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): IRF2BP2 .PanelApp HGNC gene symbol check: IRF2BP2 . IUIS Disease: IRF2BP2 deficiency . IUIS Inheritance: AD .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, possible autoimmunity and inflammatory disease. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 6 Jul 2018, 12:28 p.m.
Created: 6 Jul 2018, 12:28 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1567

Sophie Hambleton (Newcastle University)

Red List (low evidence)

One kindred only
Created: 29 Jun 2018, 9:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CVID

Publications

Created: 29 Jun 2018, 9:25 p.m.

Panel version: Imported from Primary immunodeficiency panel version 0.1371

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, possible autoimmunity and inflammatory disease
  • Predominantly Antibody Deficiencies
  • CVID
  • Immunodeficiency, common variable, 14, MIM# 617765
OMIM
615332
Clinvar variants
Variants in IRF2BP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Apr 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: IRF2BP2 were changed from Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID to Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID; Immunodeficiency, common variable, 14, MIM# 617765

8 Apr 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: IRF2BP2 were set to 27016798; 32086639; 32048120

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to IRF2BP2. Added phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID for gene: IRF2BP2 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: IRF2BP2 was added gene: IRF2BP2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IRF2BP2 were set to 27016798; 32086639; 32048120 Phenotypes for gene: IRF2BP2 were set to Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID