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  3. IRF2BP2
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Common Variable Immunodeficiency

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 3 panels

2 reviews

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

Reports of additional patients:
4yo with chronic diarrhea, severe eczema, anemia, failure to thrive, fevers, short stature, recurrent infections, cataracts, hypodontia, hypotrichosis alopecia, hypogammaglobulinemia.
The 33-year-old male presented with recurrent respiratory infections since childhood, colitis and RA beginning at age 25 years.
Created: 9 Nov 2022, 11:42 p.m. | Last Modified: 9 Nov 2022, 11:42 p.m.
Panel Version: 1.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
common variable immune deficiency

Publications

Created: 9 Nov 2022, 11:42 p.m.
Last Modified: 9 Nov 2022, 11:42 p.m.
Panel version: 1.1

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A single family with 3 affected members with a heterozygous missense variant and supporting in vitro assays and assays of patient cells.
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Created: 21 Jul 2020, 2:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency, common variable, 14 MIM#617765

Publications

Created: 21 Jul 2020, 2:18 a.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency, common variable, 14 MIM#617765
OMIM
615332
Clinvar variants
Variants in IRF2BP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Nov 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IRF2BP2 were set to 27016798; 32048120

12 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: irf2bp2 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irf2bp2 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: irf2bp2 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IRF2BP2 was added gene: IRF2BP2 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BP2 were set to 27016798; 32048120 Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14 MIM#617765 Review for gene: IRF2BP2 was set to AMBER