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COVID-19 research

Gene: C4B

Green List (high evidence)

C4B (complement C4B (Chido blood group))
EnsemblGeneIds (GRCh38): ENSG00000224389
EnsemblGeneIds (GRCh37): ENSG00000224389
OMIM: 120820, Gene2Phenotype
C4B is in 5 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)

Complete C4 deficiency is associated with susceptibility to invasive infection and SLE
Created: 19 Jun 2018, 6:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SLE predisposition

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): C4A+C4B .PanelApp HGNC gene symbol check: C4B . IUIS Disease: Complete C4 deficiency . IUIS Inheritance: AR .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 20 Jun 2018, 3:39 p.m.
changed to Green, external expert review notes Complete C4 deficiency is associated with susceptibility to invasive infection and SLE
Created: 20 Jun 2018, 3:39 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 20 Jun 2018, 3:38 p.m.
Leave as Amber for external clinical review, conflicting evidence regarding microbial infection
Created: 15 Jun 2018, 4:31 p.m.
Complete or partial C4B deficiencies has been related to vulnerability and severity of microbial infection PMID: 2355198, 12626442, 2788199). However in PMID:19062096 and PMID:1569346 could not confirm this
Created: 15 Jun 2018, 4:25 p.m.
Complete C4 deficiency requires four null alleles and is rarely found, but is highly associated with SLE (75% incidence). Partial C4 deficiencies with one to three null alleles, however, are relatively common, found in up to 25% of individuals. Complete C4A deficiency is greatly over-represented in the SLE population. C4A deficiencies are found in about 1% of the general population and 10–15% of patients with SLE. Complete C4B deficiency has been associated with bacterial infections, suggesting that the functionally of different C4 genes, C4A and C4B contribute differently to host defense and autoimmunity (PMID:2788199, 2355198). However, Cates et al. (1009) PMID:1569346 could not confirm this association, and showed that C4B deficiency is not associated with meningitis or bacteremia with encapsulated bacteria was no increase in homozygous C4B deficiency among patients with bacteremia or meningitis caused by encapsulated bacteria. PMID: 19062096 (2009) no relation was found between C4 isotypic deficiencies and meningitis, in agreement with the results of Cates et al. (1992), but they noted the chort was small.
Created: 15 Jun 2018, 3:54 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in 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 supplied by GRID. GRID Gene Symbol HGNC PanelApp check: C4B, GRID_Gene_Symbol: C4B, GRID_Transcript_ENS_Community submitted: ENST00000435363, GRID_Transcript_RefSeq: NM_001002029.3, GRID_Transcript_ENS_used_on_Production: ENST00000435363
Created: 17 Apr 2018, 12:12 p.m.

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • C4B deficiency, 614379
  • SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
  • Complement Deficiencies
  • SLE predisposition
OMIM
120820
Clinvar variants
Variants in C4B
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: C4B was added gene: C4B was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C4B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C4B were set to 12626442; 2355198; 19062096; 1569346; 2788199 Phenotypes for gene: C4B were set to C4B deficiency, 614379; SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense; Complement Deficiencies; SLE predisposition