Primary immunodeficiencyGene: IRF2BP2
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.
One kindred only
Created: 29 Jun 2018, 9:25 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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.
Gene: irf2bp2 has been classified as Red List (Low Evidence).
Phenotypes for gene: IRF2BP2 were set to Recurrent infections, possible autoimmunity and inflammatory disease; Predominantly Antibody Deficiencies; CVID
Publications for gene: IRF2BP2 were set to 27016798
Mode of inheritance for gene: IRF2BP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene IRF2BP2 were set to Recurrent infections, possible autoimmunity and inflammatory disease, Predominantly Antibody Deficiencies
IRF2BP2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
IRF2BP2 was created by Louise Daugherty