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Unexplained young onset end-stage renal disease - additional genes

Gene: C3

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Green
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

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.

Copied from panel: Unexplained young onset end-stage renal disease v5.4

Details

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

History Filter Activity

27 Sep 2024, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (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, OMIM:613779; {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925

25 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: C3 was added gene: C3 was added to Unexplained young onset end-stage renal disease - additional genes. 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 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD