Vasculitis
Gene: C4AEnsemblGeneIds (GRCh38): ENSG00000244731
EnsemblGeneIds (GRCh37): ENSG00000244731
OMIM: 120810, Gene2Phenotype
C4A is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B
There are no LP/P SNV in clinvar
PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiencyCreated: 21 Mar 2022, 6:41 a.m. | Last Modified: 21 Mar 2022, 6:41 a.m.
Panel Version: 0.42
Mode of inheritance
Other
Phenotypes
C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- C4a deficiency MIM#614380
- susceptibility systemic lupus erythematosus
- Tags
- OMIM
- 120810
- Clinvar variants
- Variants in C4A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c4a has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: C4A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: C4A was changed from Unknown to Other
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c4a has been classified as Amber List (Moderate Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: C4A.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: C4A was added gene: C4A was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C4A was set to Unknown