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COVID-19 research

Gene: C2

Green List (high evidence)

C2 (complement C2)
EnsemblGeneIds (GRCh38): ENSG00000166278
EnsemblGeneIds (GRCh37): ENSG00000166278
OMIM: 613927, Gene2Phenotype
C2 is in 6 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Phenotypes
lupus

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): C2 .PanelApp HGNC gene symbol check: C2 . IUIS Disease: C2 deficiency . IUIS Inheritance: AR .T cells: Low/variable, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: SLE, infections with encapsulated organisms, atherosclerosis. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 1:39 p.m.
Comment on list classification: Changed from Amber to Green supporting immune dysfunction
Created: 1 Jun 2018, 12:34 p.m.
Comment on publications: Added publications to support immune dysfunction in at least three unrelated cases. Complement C2 deficiency is the most common genetically determined complement deficiency with a prevalence estimated to be approximately 1:20,000 in individuals of Caucasian ancestry, making it a clinically important immune deficiency PMID:11079100,15643297. The deficiency is, in the majority of cases, caused by homozygosity for C2 genes having deletions in exon 6, resulting in complete absence of C2, or in some cases caused by other C2 gene mutations PMID:7901282 and PMID:8621452
Created: 1 Jun 2018, 12:25 p.m.
Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency
Created: 1 Jun 2018, 12:04 p.m.
Comment on phenotypes: Added MIMid from OMIM and phenotype from Orphanet
Created: 1 Jun 2018, 11:57 a.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: C2, PanelApp HGNC gene symbol check: C2, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement component 2 deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: C2, GRID_Gene_Symbol: C2, GRID_Transcript_ENS_Community submitted: ENST00000299367, GRID_Transcript_RefSeq: NM_000063.4, GRID_Transcript_ENS_used_on_Production: ENST00000299367
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Complement Component C2 Deficiency
  • Lupus
  • Complement Deficiencies
  • SLE, infections with encapsulated organisms, atherosclerosis
  • C2 deficiency, 217000
  • Immunodeficiency due to C1, C4, or C2 component complement deficiency
OMIM
613927
Clinvar variants
Variants in C2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: C2 was added gene: C2 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,Inherited complement deficiency v0.11,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2 were set to 1577763; 15643297; 11079100; 8621452; 7901282 Phenotypes for gene: C2 were set to Complement Component C2 Deficiency; Lupus; Complement Deficiencies; SLE, infections with encapsulated organisms, atherosclerosis; C2 deficiency, 217000; Immunodeficiency due to C1, C4, or C2 component complement deficiency