Atypical haemolytic uraemic syndrome

Gene: C3

Green List (high evidence)

C3 (complement C3)
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 9 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.

Daniel Gale (UCL)

Green List (high evidence)

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.

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

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, 612925
OMIM
120700
Clinvar variants
Variants in C3
Penetrance
Complete
Publications
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

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 17/08/2016

16 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

16 Aug 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for C3 were set to 18796626

16 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for C3 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925;

16 Aug 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for C3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Aug 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for C3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Aug 2016, Gel status: 2

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for C3 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

29 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

C3 was added to Atypical haemolytic uraemic syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene C3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C3 was added to Atypical haemolytic uraemic syndromepanel. Sources: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C3 was created by ellenmcdonagh