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Primary immunodeficiency

Gene: C1QB

Green List (high evidence)

C1QB (complement C1q B chain)
EnsemblGeneIds (GRCh38): ENSG00000173369
EnsemblGeneIds (GRCh37): ENSG00000173369
OMIM: 120570, Gene2Phenotype
C1QB is in 4 panels

5 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)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SLE; lupus-like disease; susceptibility to invasive bacterial infection

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): C1QB .PanelApp HGNC gene symbol check: C1QB . IUIS Disease: C1q deficiency due to defects in C1QB . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: SLE, infections with encapsulated organisms. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 1:59 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 1:59 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: C1Q-beta;Q, subunit unknown, PanelApp HGNC gene symbol check: C1QB, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement component 1 deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: C1QB, GRID_Gene_Symbol: C1QB, GRID_Transcript_ENS_Community submitted: ENST00000314933, GRID_Transcript_RefSeq: NM_000491.3, GRID_Transcript_ENS_used_on_Production: ENST00000314933
Created: 17 Apr 2018, 12:12 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added to this panel and promoted to green due to expert review by the ClinGen team and internal check from the Genomics England clinical team.
Created: 18 Jul 2017, 2:54 p.m.
ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 06/13/2016) and DEFINITIVE by Expert curation (dated 01/09/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/3216. This gene and information was sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 18 Jul 2017, 2:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency due to an early component of complement deficiency; ORPHA169147; OMIM 613652

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Inherited complement deficiency v0.11
Phenotypes
  • Immunodeficiency due to an early component of complement deficiency, 613652
  • C1q deficiency
  • Complement component 1 deficiency
  • SLE
  • lupus-like disease
  • susceptibility to invasive bacterial infection
  • SLE, infections with encapsulated organisms
  • Complement Deficiencies
OMIM
120570
Clinvar variants
Variants in C1QB
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 C1QB.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to C1QB.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to C1QB.

12 Jul 2018, Gel status: 4

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: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652, C1q deficiency, Complement component 1 deficiency, SLE, lupus-like disease, susceptibility to invasive bacterial infection, SLE, infections with encapsulated organisms, Complement Deficiencies

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to C1QB. 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 C1QB. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: c1qb has been classified as Green List (High Evidence).

13 Jun 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652; C1q deficiency; Complement component 1 deficiency; SLE; lupus-like disease; susceptibility to invasive bacterial infection

13 Jun 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652; C1q deficiency; Complement component 1 deficiency; SLE; lupus-like disease; susceptibility to invasive bacterial infection

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to C1QB. Panel: Primary immunodeficiency disorders Phenotypes for gene C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652, ORPHA169147, C1q deficiency, Complement component 1 deficiency

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652, ORPHA169147, C1q deficiency

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to C1QB. Panel: Primary immunodeficiency disorders Phenotypes for gene C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652, ORPHA169147, C1q deficiency

11 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652; ORPHA169147

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

C1QB was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Inherited complement deficiency v0.11

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

C1QB was created by Louise Daugherty