Complement Deficiencies
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, 12:08 a.m. | Last Modified: 21 Mar 2022, 5:39 a.m.
Panel Version: 0.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: C4A was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Mode of inheritance for gene: C4A was changed from Other to Other
Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Mode of inheritance for gene: C4A was changed from Other to Other
Tag SV/CNV tag was added to gene: C4A.
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).
Gene: c4a has been classified as Green List (High Evidence).
Tag for review tag was added to gene: C4A.
gene: C4A was added gene: C4A was added to Complement deficiencies_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: C4A was set to Unknown