Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: IRF2BP2

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.

Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.

Panel Version: 5.3

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

Green List (high evidence)

Comment on list classification: As reviewed by Hannah Knight, there are four unrelated cases in support of the association of monoallelic IRF2BP2 variants with immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS review.

Created: 12 Oct 2023, 8:36 p.m. | Last Modified: 12 Oct 2023, 8:36 p.m.

Panel Version: 4.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Immunodeficiency, common variable, 14, OMIM:617765

Green List (high evidence)

PMID: 27016798: original paper reported one family with p.S551N variant
PMID: 33864888 reported a patient with similar phenotype to first paper, with de novo variant p.Q536delinsX
PMID: 34451894: novel variant in two siblings p.Ala209Glnfs*31
PMID: 36193988 reported a de novo variant p.Q540*

Created: 10 Oct 2023, 9:37 a.m. | Last Modified: 10 Oct 2023, 9:37 a.m.

Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Immunodeficiency, common variable, 14

Publications

• 27016798
• 33864888
• 34451894
• 36193988

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.

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

• 27016798