Atypical haemolytic uraemic syndrome
Gene: C3

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

4 reviews

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Valerie Wilson, The National Renal Complement Therapeutics Centre, February 2019 on behalf of Yorkshire and North East GLH for the GMS Renal Specialist Test Group; Gene Symbol submitted: C3; Suggested initial gene rating: none provided;
Created: 12 Feb 2019, 12:40 p.m.

Created: 12 Feb 2019, 12:40 p.m.

Panel version: 1.7

Daniel Gale (UCL)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least four variants reported, together with supporting functional studies
Created: 16 Aug 2016, 7:08 a.m.

Comment on publications: Includes functional analysis
Created: 16 Aug 2016, 7:06 a.m.

Comment on phenotypes: Variants also reported in C3 deficiency, 613779 and Macular degeneration, age-related, 9, 611378
Created: 16 Aug 2016, 7:03 a.m.

Comment on mode of inheritance: Biallelic inheritance for C3 deficiency 613779
Created: 16 Aug 2016, 7:02 a.m.

Comment on mode of pathogenicity: modification in interactions with regulators results in a secondary gain of function for C3 variants in Hemolytic uremic syndrome, atypical, susceptibility to, 5 612925.
Created: 16 Aug 2016, 7 a.m.

Created: 16 Aug 2016, 7 a.m.

Panel version: 0.29

Tim Goodship (Newcastle University)

Green List (high evidence)

Gain of function variants
Created: 15 Dec 2015, 3 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 15 Dec 2015, 3 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925

OMIM

120700

Clinvar variants

Variants in C3

Penetrance

Complete

Publications

18796626

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

13 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: C3 were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925 to Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925

12 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to C3. Rating Changed from Green List (high evidence) to Green List (high evidence)

17 Aug 2016, Gel status: 4