Complement Deficiencies
Gene: C8A

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Borderline Amber/Green.

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 additional P/LP variants in ClinVar.
Created: 21 Mar 2022, 7:30 a.m. | Last Modified: 21 Mar 2022, 7:30 a.m.

Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C8 deficiency, type I MIM#613790

Publications

Created: 21 Mar 2022, 7:30 a.m.
Last Modified: 21 Mar 2022, 7:30 a.m.
Panel version: 0.68

Ain Roesley (Victorian Clinical Genetics Services)

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.
Created: 21 Mar 2022, 3:17 a.m. | Last Modified: 21 Mar 2022, 3:22 a.m.

Panel Version: 0.11659

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C8 deficiency, type I MIM#613790

Publications

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

Created: 21 Mar 2022, 3:17 a.m.
Last Modified: 21 Mar 2022, 3:22 a.m.
Panel version: Imported from Mendeliome panel version 0.11659

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Immunology Flagship
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