Atypical haemolytic uraemic syndrome
Gene: C3
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.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least four variants reported, together with supporting functional studiesCreated: 16 Aug 2016, 7:08 a.m.
Comment on publications: Includes functional analysisCreated: 16 Aug 2016, 7:06 a.m.
Comment on phenotypes: Variants also reported in C3 deficiency, 613779 and Macular degeneration, age-related, 9, 611378Created: 16 Aug 2016, 7:03 a.m.
Comment on mode of inheritance: Biallelic inheritance for C3 deficiency 613779Created: 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.
Gain of function variantsCreated: 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
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
Source NHS GMS was added to C3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 17/08/2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Publications for C3 were set to 18796626
Phenotypes for C3 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 5, 612925;
Mode of inheritance for C3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for C3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
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
C3 was created by ellenmcdonagh
C3 was added to Atypical haemolytic uraemic syndromepanel. Sources: Radboud University Medical Center, Nijmegen