Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: C1QB
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SLE; lupus-like disease; susceptibility to invasive bacterial infection
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/ACreated: 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 deficiencyCreated: 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: ENST00000314933Created: 17 Apr 2018, 12:12 p.m.
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
Source NHS GMS was added to C1QB.
Source North West GLH was added to C1QB.
Source London North GLH was added to C1QB.
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.
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
IUIS Classification February 2018 was added to C1QB. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to C1QB. Panel: Primary immunodeficiency disorders
Gene: c1qb has been classified as Green List (High Evidence).
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
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
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
Phenotypes for gene C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652, ORPHA169147, C1q deficiency
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
Phenotypes for C1QB were set to Immunodeficiency due to an early component of complement deficiency, 613652; ORPHA169147
C1QB was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Inherited complement deficiency v0.11
C1QB was created by Louise Daugherty