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  2. Renal and urinary tract disorders
  3. C3
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Renal and urinary tract disorders

Gene: C3

Green List (high evidence)
C3 (complement C3)
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. At least three variants reported in C3 deficiency 613779 and at least four in Hemolytic uremic syndrome, atypical, susceptibility to, 5 612925
Created: 4 Aug 2016, 10:27 a.m.
Comment on phenotypes: Also associated with {Macular degeneration, age-related, 9} 611378
Created: 4 Aug 2016, 10:25 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE Study
Created: 5 Jul 2016, 10:26 a.m.
Created: 5 Jul 2016, 10:26 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.136

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • C3 deficiency 613779 AR
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
OMIM
120700
Clinvar variants
Variants in C3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: C3 were changed from C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

30 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: C3 were changed from C3 deficiency to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: C3 was added gene: C3 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: C3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: C3 were set to 15781264; 18796626 Phenotypes for gene: C3 were set to C3 deficiency