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Primary immunodeficiency

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
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Decay-accelerating factor for complement deficiency (DAF CD55)
  • protein-losing enteropathy
  • hypogammaglobulinaemia
  • angiopathic thrombosis
  • primary intestinal lymphangiectasia
  • Protein losing enteropathy, thrombosis
  • Complement Deficiencies
OMIM
125240
Clinvar variants
Variants in CD55
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CD55.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CD55.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CD55.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CD55 were set to Decay-accelerating factor for complement deficiency (DAF CD55), protein-losing enteropathy, hypogammaglobulinaemia, angiopathic thrombosis, primary intestinal lymphangiectasia, Protein losing enteropathy, thrombosis, Complement Deficiencies

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CD55. Panel: Primary immunodeficiency disorders

12 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cd55 has been classified as Green List (High Evidence).

12 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cd55 has been classified as Green List (High Evidence).

12 Jun 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CD55 were set to Decay-accelerating factor for complement deficiency (DAF CD55); protein-losing enteropathy; hypogammaglobulinaemia; angiopathic thrombosis; primary intestinal lymphangiectasia

12 Jun 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CD55 were set to 28657829

12 Jun 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CD55 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CD55 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CD55 was created by Louise Daugherty