Predominantly Antibody Deficiency
Gene: CR2

CR2 (complement C3d receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000117322
EnsemblGeneIds (GRCh37): ENSG00000117322
OMIM: 120650, Gene2Phenotype
CR2 is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

In addition to the two cases reported below, PMID:28499783 reported two siblings from consanguineous parents, both with a homozygous frameshift variant in CR2 and with recurrent respiratory infections and hypogammaglobulinemia.
Created: 12 Oct 2023, 10:38 a.m. | Last Modified: 12 Oct 2023, 10:38 a.m.

Panel Version: 1.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Immunodeficiency, common variable, 7, OMIM:614699

Publications

Created: 12 Oct 2023, 10:38 a.m.
Last Modified: 12 Oct 2023, 10:38 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 1.6

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Created: 21 Jul 2020, 1:46 a.m. | Last Modified: 21 Jul 2020, 1:46 a.m.

Panel Version: 0.37

Created: 21 Jul 2020, 1:46 a.m.
Last Modified: 21 Jul 2020, 1:46 a.m.
Panel version: Imported from Common Variable Immunodeficiency panel version 0.37

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID:28499783 reported two siblings from consanguineous parents, both with a homozygous frameshift variant in CR2 and with recurrent respiratory infections and hypogammaglobulinemia.
Created: 15 Oct 2023, 7:10 a.m. | Last Modified: 15 Oct 2023, 7:10 a.m.

Panel Version: 0.125

Two individuals reported.
Created: 10 Apr 2020, 6:05 a.m. | Last Modified: 10 Apr 2020, 6:05 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency, common variable, 7, MIM# 614699

Publications

Created: 10 Apr 2020, 6:05 a.m.
Last Modified: 10 Apr 2020, 6:05 a.m.
Panel version: 0.125

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency, common variable, 7, MIM# 614699

OMIM

120650

Clinvar variants

Variants in CR2

Penetrance

None

Publications

Panels with this gene