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Primary immunodeficiency

Gene: IRF2BP2

Red List (low evidence)

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

2 reviews

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.

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

Details

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

History Filter Activity

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to IRF2BP2. Added phenotypes Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies for gene: IRF2BP2 Publications for gene IRF2BP2 were updated from 27016798 to 32048120; 27016798; 32086639

12 Jul 2018, Gel status: 1

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: irf2bp2 has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: IRF2BP2 were set to Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: IRF2BP2 were set to 27016798

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: IRF2BP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene IRF2BP2 were set to Recurrent infections, possible autoimmunity and inflammatory disease, Predominantly Antibody Deficiencies

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IRF2BP2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IRF2BP2 was created by Louise Daugherty