Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: C1QB

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

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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.

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

• 9476130
• 17513176
• 2894352
• 23651859
• 24160257
• 25454803
• 17513176
• 24160257
• 12133956