Complement Deficiencies

Gene: C4A

Amber List (moderate evidence)

C4A (complement C4A (Rodgers blood group))
EnsemblGeneIds (GRCh38): ENSG00000244731
EnsemblGeneIds (GRCh37): ENSG00000244731
OMIM: 120810, Gene2Phenotype
C4A is in 3 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

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 deficiency
Created: 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
SV/CNV for review
OMIM
120810
Clinvar variants
Variants in C4A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2022, Gel status: 2

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

21 Mar 2022, Gel status: 2

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

21 Mar 2022, Gel status: 2

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C4A was changed from Other to Other

21 Mar 2022, Gel status: 2

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

21 Mar 2022, Gel status: 2

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C4A was changed from Other to Other

21 Mar 2022, Gel status: 2

Added Tag

Ain Roesley (Victorian Clinical Genetics Services)

Tag SV/CNV tag was added to gene: C4A.

21 Mar 2022, Gel status: 2

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus

21 Mar 2022, Gel status: 2

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C4A were set to

21 Mar 2022, Gel status: 2

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C4A was changed from Unknown to Other

21 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c4a has been classified as Amber List (Moderate Evidence).

21 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c4a has been classified as Green List (High Evidence).

9 Jul 2021, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag for review tag was added to gene: C4A.

17 Nov 2019, Gel status: 3

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