Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: C1S

Green List (high evidence)

C1S (complement C1s)
EnsemblGeneIds (GRCh38): ENSG00000182326
EnsemblGeneIds (GRCh37): ENSG00000182326
OMIM: 120580, Gene2Phenotype
C1S is in 4 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

IUIS: Inheritance - AR (Causes C1s deficiency. Absent CH50 hemolytic activity, defective activation of the classical pathway. Associated with SLE, infections with encapsulated organisms, Ehlers-Danlos phenotype), AD GOF (Causes C1r Periodontal Ehlers-Danlos. Normal CH50. Associated with Hyperpigmentation, skin fragility)
Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.
Panel Version: 0.103

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

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)

Autosomal dominant mutations in same gene cause Periodontal Ehlers Danlos syndrome, see PMID 27745832
Created: 19 Jun 2018, 6:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SLE; pyogenic infections

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Added publication referenced by IUIS december 2019 update
Created: 28 Feb 2020, 8:49 p.m. | Last Modified: 28 Feb 2020, 8:49 p.m.
Panel Version: 2.36
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): C1S .PanelApp HGNC gene symbol check: C1S . IUIS Disease: C1s deficiency . IUIS Inheritance: AR .T cells: Slightly increased DN T cells, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: SLE, infections with encapsulated organisms, Ehlers Danlos phenotype . 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: 20 Jun 2018, 3:29 p.m.
Comment on publications: added publication PMID:18062908 suggested from external expert review to support upgrading of the gene to Green
Created: 20 Jun 2018, 3:29 p.m.
Comment on list classification: Changed from Amber to Green due to expert review. It is noted that SLE; pyogenic infections are biallelic and that monoallelic forms result different phenotype, and this is reflected in the Ehlers-Danlos syndromes panel
Created: 20 Jun 2018, 3:28 p.m.
Keep Amber for now, more suitable for autoinflammatory spectrum panel? Seek external clinical review.
Created: 15 Jun 2018, 3:24 p.m.
Past onto internal clinical team. The link between complement abnormalities and systemic lupus erythematosus (SLE) is well established and widely described. Homozygous and/or heterozygous complement-component deficiencies of the classical pathway (C1q, C1r, C1s, C4A, C4B and C2) are causally associated with susceptibility to the development of SLE- should this be reflected on this panel?
Created: 15 Jun 2018, 2:14 p.m.
The incidence of SLE is 90% for C1q, 75% for C4, and 55% for C1r and C1s deficiency. This increased risk may be explained by that fact that C1q is important for the clearance of immune complexes and apoptotic cells
Created: 15 Jun 2018, 1:56 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: C1s, PanelApp HGNC gene symbol check: C1S, 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: C1S, GRID_Gene_Symbol: C1S, GRID_Transcript_ENS_Community submitted: ENST00000328916, GRID_Transcript_RefSeq: NM_201442/NM_001734, GRID_Transcript_ENS_used_on_Production: ENST00000328916
Created: 17 Apr 2018, 12:12 p.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2021
Phenotypes
  • SLE
  • pyogenic infections
  • Complement component 1 deficiency
  • SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
  • Complement Deficiencies
  • C1s deficiency, 613783
  • C1s deficiency, Lupus
OMIM
120580
Clinvar variants
Variants in C1S
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source IUIS Classification December 2021 was added to C1S. Mode of inheritance for gene C1S was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: C1S was added gene: C1S 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: C1S was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1S were set to 27745832; 11390518; 20727163; 9856483 Phenotypes for gene: C1S were set to SLE; pyogenic infections; Complement component 1 deficiency; SLE, infections with encapsulated organisms, Ehlers Danlos phenotype; Complement Deficiencies; C1s deficiency, 613783; C1s deficiency, Lupus