Vasculitis
Gene: C8A

C8A (complement C8 alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000157131
EnsemblGeneIds (GRCh37): ENSG00000157131
OMIM: 120950, Gene2Phenotype
C8A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense) Amber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.

No other P/LP variants reported in ClinVar.

SLE-like presentation.
Created: 21 Mar 2022, 7:34 a.m. | Last Modified: 21 Mar 2022, 7:34 a.m.

Panel Version: 0.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C8 deficiency, type I MIM#613790

Publications

Created: 21 Mar 2022, 7:34 a.m.
Last Modified: 21 Mar 2022, 7:34 a.m.
Panel version: 0.46

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

C8 deficiency, type I MIM#613790

OMIM

120950

Clinvar variants

Variants in C8A

Penetrance

None

Publications

Panels with this gene