Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CD55
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
11 patients described in 28657829 with strong pathomechanistic back-up studiesCreated: 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
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/ACreated: 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 reviewCreated: 12 Jun 2018, 10:53 a.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 12 Jun 2018, 10:52 a.m.
Comment on mode of inheritance: added MOI from external reviewCreated: 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.
Source NHS GMS was added to CD55.
Source North West GLH was added to CD55.
Source London North GLH was added to CD55.
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.
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
IUIS Classification February 2018 was added to CD55. Panel: Primary immunodeficiency disorders
Gene: cd55 has been classified as Green List (High Evidence).
Gene: cd55 has been classified as Green List (High Evidence).
Phenotypes for gene: CD55 were set to Decay-accelerating factor for complement deficiency (DAF CD55); protein-losing enteropathy; hypogammaglobulinaemia; angiopathic thrombosis; primary intestinal lymphangiectasia
Publications for gene: CD55 were set to 28657829
Mode of inheritance for gene: CD55 was changed from to BIALLELIC, autosomal or pseudoautosomal
CD55 was added to Primary immunodeficiency disorders panel. Sources: ESID Registry 20171117
CD55 was created by Louise Daugherty