Complement Deficiencies
Gene: C4B

C4B (complement C4B (Chido blood group))
EnsemblGeneIds (GRCh38): ENSG00000224389
EnsemblGeneIds (GRCh37): ENSG00000224389
OMIM: 120820, Gene2Phenotype
C4B is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A

no LP/P SNVs in clinvar. (1 LP but evidence provided indicates that it was classified as a VUS)

PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4B alone leads to partial deficiency
Created: 20 Mar 2022, 11:56 p.m. | Last Modified: 21 Mar 2022, 5:34 a.m.

Panel Version: 0.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
susceptibility to autoimmune disease; C4B deficiency MIM#614379

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Mar 2022, 11:56 p.m.
Last Modified: 21 Mar 2022, 5:34 a.m.
Panel version: 0.66

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

susceptibility to autoimmune disease
C4B deficiency MIM#614379

Tags

SV/CNV

OMIM

120820

Clinvar variants

Variants in C4B

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 Mar 2022, Gel status: 2

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: C4B.

21 Mar 2022, Gel status: 2