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STRs in panel
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COVID-19 research

Gene: SERPING1

Green List (high evidence)

SERPING1 (serpin family G member 1)
EnsemblGeneIds (GRCh38): ENSG00000149131
EnsemblGeneIds (GRCh37): ENSG00000149131
OMIM: 606860, Gene2Phenotype
SERPING1 is in 3 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)

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: OMIM states the association with Angioedema, hereditary, types I and II as both AR and AD
Created: 14 May 2018, 8:32 p.m.
Comment on list classification: Making green as there is enough evidence for variants in this gene being association with the disorder, and GeL clinicians agree that it is an autoinflammatory disorder within scope of this expanded panel.
Created: 14 May 2018, 8:30 p.m.
In OMIM this gene (with the previous symbol of C1NH) is associated with "Angioedema, hereditary, types I and II" and "Complement component 4, partial deficiency of". Genetics Home Reference explains that Angioedema, hereditary, types I and II is thought to be caused by mutations in the SERPING1 gene which provides instructions for making the C1 inhibitor protein, which is important for controlling inflammation. OMIM reports that patients with HAE type I (absent or low levels of an antigenically-normal protein) appear to have a deletion of the C1 inhibitor gene or a truncated transcript because of a stop codon, whereas patients with HAE type II (elevated or normal levels of a dysfunctional protein) have a single base substitution (Davis et al., 1992; Cicardi and Agostoni, 1996). Numerous studies are reported in OMIM describing cases where either point mutations or large deletions are found in patients with Angioedema, hereditary, types I and II. In particular Roche et al., 2005 (PMID: 1597123) report on 87 Spanish families (77 with type I, and 10 with type II HAE). They found large rearrangements in 13 families, and point mutations or microdeletions/insertions in 74 families. Only one case of SERPING1 involvement with 'Complement component 4, partial deficiency of' has been reported. This was by Zahedi et al 1995 (PMID: 7883978) who reports that in 11 members of a 5-family kindred spanning 3 generations an ala443-to-val mutation in the C1NH ( SERPING1) gene, resulting in a dysfunctional C1 inhibitor. The pattern of inheritance was autosomal dominant.
Created: 10 May 2018, 10:08 a.m.
Comment on phenotypes: Added phenotype of Complement component 4, partial deficiency of 120790 and added MIM number to Angioedema, hereditary, types I and II
Created: 9 May 2018, 4:12 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

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): SERPING1 .PanelApp HGNC gene symbol check: SERPING1 . IUIS Disease: C1 inhibitor deficiency . IUIS Inheritance: AD .T cells: Normal, defective TCR mediated activation, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Hereditary angioedema. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 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: 19 Apr 2018, 3:18 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: C1 Inhibitor, PanelApp HGNC gene symbol check: SERPING1, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Hereditary Angioedema (C1inh)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: SERPING1, GRID_Gene_Symbol: SERPING1, GRID_Transcript_ENS_Community submitted: ENST00000278407, GRID_Transcript_RefSeq: NM_000062.2, GRID_Transcript_ENS_used_on_Production: ENST00000278407
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Angioedema, hereditary, types I and II 106100
  • Complement component 4, partial deficiency of 120790
  • Complement Deficiencies
  • Hereditary Angioedema (C1inh)
  • Hereditary angioedema
OMIM
606860
Clinvar variants
Variants in SERPING1
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: SERPING1 was added gene: SERPING1 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: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SERPING1 were set to 1597123; 7883978 Phenotypes for gene: SERPING1 were set to Angioedema, hereditary, types I and II 106100; Complement component 4, partial deficiency of 120790; Complement Deficiencies; Hereditary Angioedema (C1inh); Hereditary angioedema