Vasculitis
Gene: C4A
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
Gene: c4a has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Publications for gene: C4A were set to
Mode of inheritance for gene: C4A was changed from Unknown to Other
Gene: c4a has been classified as Amber List (Moderate Evidence).
Tag SV/CNV tag was added to gene: C4A.
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