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Primary immunodeficiency

Gene: C3

Green List (high evidence)

C3 (complement C3)
EnsemblGeneIds (GRCh38): ENSG00000125730
EnsemblGeneIds (GRCh37): ENSG00000125730
OMIM: 120700, Gene2Phenotype
C3 is in 8 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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/A
Created: 2 Jul 2018, 10:48 a.m.
Comment on list classification: Changed from Amber to Green enough evidence to support immune dysfunction
Created: 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 phenotype
Created: 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 OMIM
Created: 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 deficiency
Created: 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: ENST00000245907
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
OMIM
120700
Clinvar variants
Variants in C3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to C3.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to C3.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to C3.

12 Jul 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c3 has been classified as Green List (High Evidence).

1 Jul 2018, Gel status: 1

Added New Source, Added New Source, Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

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

1 Jul 2018, Gel status: 0

Clear Sources

Louise Daugherty (Genomics England Curator)

All sources for gene: C3 were removed

1 Jul 2018, Gel status: 4

Removed Source, Removed Source, Removed Source, Removed Source, Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to C3. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to C3. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c3 has been classified as Green List (High Evidence).

1 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c3 has been classified as Green List (High Evidence).

1 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: C3 were set to 15781264; 1350678; 1976733; 4117597

1 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: C3 were set to 15781264; 1350678; 1976733

1 Jun 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: C3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

1 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: C3 were set to C3 deficiency, 613779; Complement component 3 deficiency

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to C3. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to C3. Panel: Primary immunodeficiency disorders Phenotypes for gene C3 were set to C3 deficiency, Complement component 3 deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene C3 were set to C3 deficiency

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

C3 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

C3 was created by Louise Daugherty