Complement Deficiencies
Gene: C4AEnsemblGeneIds (GRCh38): ENSG00000244731
EnsemblGeneIds (GRCh37): ENSG00000244731
OMIM: 120810, Gene2Phenotype
C4A is in 3 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Immunology Flagship
- 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
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: C4A was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: C4A was changed from Other to Other
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: C4A was changed from Other to Other
Added Tag
Ain Roesley (Victorian Clinical Genetics Services)Tag SV/CNV tag was added to gene: C4A.
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Set publications
Ain Roesley (Victorian Clinical Genetics Services)Publications for gene: C4A were set to
Set mode of inheritance
Ain Roesley (Victorian Clinical Genetics Services)Mode of inheritance for gene: C4A was changed from Unknown to Other
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: c4a has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ain Roesley (Victorian Clinical Genetics Services)Gene: c4a has been classified as Green List (High Evidence).
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag for review 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 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