Unexplained kidney failure in young people
Gene: C3EnsemblGeneIds (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 612925Created: 4 Aug 2016, 10:27 a.m.
Comment on phenotypes: Also associated with {Macular degeneration, age-related, 9} 611378Created: 4 Aug 2016, 10:25 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE StudyCreated: 5 Jul 2016, 10:26 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- C3 deficiency 613779 AR
- {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
- OMIM
- 120700
- Clinvar variants
- Variants in C3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Membranoproliferative glomerulonephritis including C3 glomerulopathy
- Retinal disorders
- Unexplained young onset end-stage renal disease - additional genes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- COVID-19 research
- Unexplained kidney failure in young people
- Atypical haemolytic uraemic syndrome
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for C3 were set to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)C3 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
clearsources
Sarah Leigh (Genomics England Curator)C3All sources for gene: C3 were removed
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)C3 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)C3 was created by sleigh