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COVID-19 research

Gene: C1QA

Green List (high evidence)

C1QA (complement C1q A chain)
EnsemblGeneIds (GRCh38): ENSG00000173372
EnsemblGeneIds (GRCh37): ENSG00000173372
OMIM: 120550, Gene2Phenotype
C1QA is in 3 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): C1QA .PanelApp HGNC gene symbol check: C1QA . IUIS Disease: C1q deficiency due to defects in C1QA . IUIS Inheritance: AR .T cells: Nl number, predominant nave T-cells, poor proliferation , .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 list classification: changed from Amber to Green, there is enough evidence to support C1QA in a PID related phenotype
Created: 1 Jun 2018, 10:54 a.m.
Comment on publications: Added publications to support the observed phenotype of C1q deficiency in more than three unrelated cases.
Two variants reported to date. C1q deficiency has been reported by Topaloglu et al. (1996) PMID: 8840296 who identified homozygosity for a C-to-T transition in codon 186 of the A chain that resulted in a gln-to-stop (Q186X) substitution in 2 sibs with C1q deficiency. The same variant was described by Petry et al. (1995) PMID:7594474 in an affected member of a Slovakian family with C1q deficiency. Petry et al. (1997) PMID:9225968 further identified homozygosity for the Q186X mutation in affected members of 3 Turkish families. Schejbel et al. (2011) PMID: 21654842 also identified Q186X mutation in an 8-year-old Iraqi boy with C1Q deficiency. In addition, they further reported 2 affected sibs from a Sudanese family segregating C1Q deficiency and identified homozygosity for another variant, trp194-to-ter (W194X) mutation in the C1QA gene, which segregated with the deficiency.
Created: 1 Jun 2018, 10:17 a.m.
Comment on phenotypes: C1q deficiency is a rare autosomal recessive disorder characterized by recurrent skin lesions, chronic infections, and an increased risk of autoimmune diseases. C1q deficiency can be caused by homozygous mutation in the genes C1QA, C1QB, or C1QC, all of which are located on chromosome 1p36.
Created: 1 Jun 2018, 9:22 a.m.
Comment on phenotypes: added MIMid from OMIM and Orphanet
Created: 1 Jun 2018, 9:19 a.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: C1Q-alpha;Q, subunit unknown, PanelApp HGNC gene symbol check: C1QA, 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: C1QA, GRID_Gene_Symbol: C1QA, GRID_Transcript_ENS_Community submitted: ENST00000374642, GRID_Transcript_RefSeq: NM_015991.2, GRID_Transcript_ENS_used_on_Production: ENST00000374642
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • SLE, infections with encapsulated organisms
  • Complement component 1 deficiency
  • C1q deficiency, 613652
  • Complement Deficiencies
  • Immunodeficiency due to a classical component pathway complement deficiency
OMIM
120550
Clinvar variants
Variants in C1QA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: C1QA was added gene: C1QA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QA were set to 7594474; 28601358; 25133636; 8840296; 26032012; 21654842 Phenotypes for gene: C1QA were set to SLE, infections with encapsulated organisms; Complement component 1 deficiency; C1q deficiency, 613652; Complement Deficiencies; Immunodeficiency due to a classical component pathway complement deficiency