COVID-19 researchGene: CR2
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CR2 .PanelApp HGNC gene symbol check: CR2 . IUIS Disease: CD21 deficiency . IUIS Inheritance: AR .T cells: Low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections. 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: 2 Jul 2018, 10:35 a.m.
Reviewed again and decided to keep as Amber, there are some conflict regarding the pertinence, still only two cases reported in the literature, and in addition to this, in Clinvar (July 2017) there are conflicting interpretations of pathogenicity reported in some clinical labs worldwide: Likely benign (Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine and ARUP Laboratories, Molecular Genetics and Genomics);Uncertain significance (Invitae), the gene-disease is not that strong.
Created: 9 May 2018, 12:36 p.m.
This gene was present in the original PanelApp PID panel dataset (review in April 2018) rated as Red. The gene is present in the external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD21, PanelApp HGNC gene symbol check: CR2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID); Predominantly antibody disorders / Hypogammaglobulinemias / Isolated IgG subclass deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CR2, GRID_Gene_Symbol: CR2, GRID_Transcript_ENS_Community submitted: ENST00000367057, GRID_Transcript_RefSeq: NM_001006658.2, GRID_Transcript_ENS_used_on_Production: ENST00000367057
Created: 17 Apr 2018, 12:12 p.m.
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.
Source Expert Review Green was added to CR2. Added phenotypes Recurrent infections; Lupus; Isolated IgG subclass deficiency; Immunodeficiency, common variable, 7; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable, 7, 614699 for gene: CR2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: CR2 was added gene: CR2 was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018,Expert Review Amber Mode of inheritance for gene: CR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CR2 were set to 22035880; 26325596 Phenotypes for gene: CR2 were set to Recurrent infections; Lupus; Isolated IgG subclass deficiency; Immunodeficiency, common variable, 7; Common variable immunodeficiency disorders (CVID); hypogammaglobulinaemia; Predominantly Antibody Deficiencies; Immunodeficiency, common variable, 7, 614699