Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: C3
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 NHS GMS was added to C3.
Source North West GLH was added to C3.
Source London North GLH was added to C3.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Gene: c3 has been classified as Green List (High Evidence).
Victorian Clinical Genetics Services was added to C3. Panel: Primary immunodeficiency disorders IUIS Classification February 2018 was added to C3. Panel: Primary immunodeficiency disorders ESID Registry 20171117 was added to C3. Panel: Primary immunodeficiency disorders GRID V2.0 was added to C3. Panel: Primary immunodeficiency disorders
All sources for gene: C3 were removed
Source Victorian Clinical Genetics Services was removed from C3. Panel: Primary immunodeficiency disorders Source IUIS Classification February 2018 was removed from C3. Panel: Primary immunodeficiency disorders Source ESID Registry 20171117 was removed from C3. Panel: Primary immunodeficiency disorders Source GRID V2.0 was removed from C3. Panel: Primary immunodeficiency disorders Other was added to C3. Panel: Primary immunodeficiency disorders Phenotypes for gene C3 were set to C3 deficiency, 613779, Complement component 3 deficiency, Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations, Atypical hemolytic-uremic syndrome, dense deposit disease, Complement Deficiencies
IUIS Classification February 2018 was added to C3. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to C3. Panel: Primary immunodeficiency disorders
Gene: c3 has been classified as Green List (High Evidence).
Gene: c3 has been classified as Green List (High Evidence).
Publications for gene: C3 were set to 15781264; 1350678; 1976733; 4117597
Publications for gene: C3 were set to 15781264; 1350678; 1976733
Mode of inheritance for gene: C3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, 613779; Complement component 3 deficiency
Expert Review Amber was added to C3. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to C3. Panel: Primary immunodeficiency disorders Phenotypes for gene C3 were set to C3 deficiency, Complement component 3 deficiency
Phenotypes for gene C3 were set to C3 deficiency
C3 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
C3 was created by Louise Daugherty