A- or hypo-gammaglobulinaemia
Gene: CR2

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

3 reviews

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sophie Hambleton (Newcastle University)

Red List (low evidence)

2 patients described only so caution required
Created: 6 Jan 2017, 3:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypogammaglobulinaemia

Publications

Created: 6 Jan 2017, 3:18 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: One positive and one negative expert review. No disease associated on Gen2Phen. Two LOF variant identified in two compound heterozygotes.
Created: 11 May 2016, 9:39 a.m.

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Immunodeficiency, common variable, 7 614699

OMIM

120650

Clinvar variants

Variants in CR2

Penetrance

Complete

Publications

Panels with this gene