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Complement Deficiencies

Gene: C3

Green List (high evidence)
C3 (complement C3)
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 9 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

> 3 famiilies
Created: 20 Mar 2022, 10:56 p.m. | Last Modified: 20 Mar 2022, 10:56 p.m.
Panel Version: 0.47

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
C3 deficiency MIM#613779

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Mar 2022, 10:56 p.m.
Last Modified: 20 Mar 2022, 10:56 p.m.
Panel version: 0.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • C3 deficiency MIM#613779
OMIM
120700
Clinvar variants
Variants in C3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779

20 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111

20 Mar 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779

20 Mar 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: C3 were set to

20 Mar 2022, Gel status: 3

Set mode of pathogenicity

Ain Roesley (Victorian Clinical Genetics Services)

Mode of pathogenicity for gene: C3 was changed from to None

20 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: c3 has been classified as Green List (High Evidence).

20 Mar 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C3 was added gene: C3 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: C3 was set to Unknown