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COVID-19 research

Gene: CD55

Green List (high evidence)

CD55 (CD55 molecule (Cromer blood group))
EnsemblGeneIds (GRCh38): ENSG00000196352
EnsemblGeneIds (GRCh37): ENSG00000196352
OMIM: 125240, Gene2Phenotype
CD55 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)

11 patients described in 28657829 with strong pathomechanistic back-up studies
Created: 11 Jun 2018, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
protein-losing enteropathy; hypogammaglobulinaemia; angiopathic thrombosis; primary intestinal lymphangiectasia

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): CD55 .PanelApp HGNC gene symbol check: CD55 . IUIS Disease: CD55 deficiency (CHAPEL disease) . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Protein losing enteropathy, thrombosis. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/A
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Red to Green from external review comment and further publications to support there more than three unrelated families with biallelic loss-of-function mutations.
Created: 12 Jun 2018, 11:03 a.m.
The 11 affected described in PMID:28657829 included 10 patients based in Turkey and 1 who was based in the Netherlands. The 11 patients were from eight families, all of whom were of Moroccan, Syrian, or Turkish ancestry.
Created: 12 Jun 2018, 11:02 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review
Created: 12 Jun 2018, 10:53 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 12 Jun 2018, 10:52 a.m.
Comment on mode of inheritance: added MOI from external review
Created: 12 Jun 2018, 10:52 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD55, PanelApp HGNC gene symbol check: CD55, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Decay-accelerating factor for complement deficiency (DAF CD55)
Created: 17 Apr 2018, 12:29 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • primary intestinal lymphangiectasia
  • protein-losing enteropathy
  • Protein losing enteropathy, thrombosis
  • Decay-accelerating factor for complement deficiency (DAF CD55)
  • Complement Deficiencies
  • hypogammaglobulinaemia
  • angiopathic thrombosis
OMIM
125240
Clinvar variants
Variants in CD55
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: CD55 was added gene: CD55 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD55 were set to 28657829 Phenotypes for gene: CD55 were set to primary intestinal lymphangiectasia; protein-losing enteropathy; Protein losing enteropathy, thrombosis; Decay-accelerating factor for complement deficiency (DAF CD55); Complement Deficiencies; hypogammaglobulinaemia; angiopathic thrombosis