COVID-19 research
Gene: C3
IUIS: Inheritance - AR LOF (Causes C3 deficiency. Absent CH50 and AH50 hemolytic activity, defective opsonization, defective humoral immune response. Associated with Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations), AD GOF (causes C3 GOF. Increased activation of complement. Associated with atypical hemolytic-uremic syndrome).Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): C3 .PanelApp HGNC gene symbol check: C3 . IUIS Disease: C3 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Infections , glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations.. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): C3 .PanelApp HGNC gene symbol check: C3 . IUIS Disease: C3 . IUIS Inheritance: AD .T cells: Very low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical hemolytic-uremic syndrome , dense deposit disease. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/ACreated: 2 Jul 2018, 10:48 a.m.
Comment on list classification: Changed from Amber to Green enough evidence to support immune dysfunctionCreated: 1 Jun 2018, 1:10 p.m.
Comment on publications: Added publications to support the phenotype. There are three unrelated cases each with a difference variants of C3 that resulted in the observed phenotypeCreated: 1 Jun 2018, 1:03 p.m.
Comment on mode of inheritance: changed MOI from AD to AR. Noted in the GRID project as "AR, gain-of-function AD"Created: 1 Jun 2018, 12:57 p.m.
Comment on phenotypes: added MIMid from OMIMCreated: 1 Jun 2018, 12:47 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: C3, PanelApp HGNC gene symbol check: C3, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement component 3 deficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: C3, GRID_Gene_Symbol: C3, GRID_Transcript_ENS_Community submitted: ENST00000245907, GRID_Transcript_RefSeq: NM_000064.2, GRID_Transcript_ENS_used_on_Production: ENST00000245907Created: 17 Apr 2018, 12:12 p.m.
Source IUIS Classification December 2022 was added to C3. Mode of inheritance for gene C3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: C3 was added gene: C3 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C3 were set to 1350678; 1976733; 15781264; 4117597 Phenotypes for gene: C3 were set to Complement Deficiencies; Complement component 3 deficiency; Atypical hemolytic-uremic syndrome, dense deposit disease; Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations; C3 deficiency, 613779