Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CD46
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
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
atypical HUS
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): CD46 .PanelApp HGNC gene symbol check: CD46 . IUIS Disease: Membrane Cofactor Protein (CD46) deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Atypical hemolytic-uremic syndrome, infections, preeclampsia. IUIS Major category: Complement Deficiencies. IUIS Subcategory: N/ACreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review and further publications to support gene-disease associationCreated: 27 Jun 2018, 7:19 p.m.
Comment on publications: Added publications to support upgrading of the gene to GreenCreated: 27 Jun 2018, 7:19 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: CD46, PanelApp HGNC gene symbol check: CD46, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Membrane Cofactor Protein (CD46) deficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CD46, GRID_Gene_Symbol: CD46, GRID_Transcript_ENS_Community submitted: ENST00000322875, GRID_Transcript_RefSeq: NM_002389.4, GRID_Transcript_ENS_used_on_Production: ENST00000322875Created: 17 Apr 2018, 12:12 p.m.
Source NHS GMS was added to CD46.
Source North West GLH was added to CD46.
Source London North GLH was added to CD46.
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 CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922, Membrane Cofactor Protein (CD46) deficiency, atypical HUS, Atypical hemolytic-uremic syndrome, infections, preeclampsia, Complement Deficiencies
Gene: cd46 has been classified as Green List (High Evidence).
Gene: cd46 has been classified as Green List (High Evidence).
Publications for gene: CD46 were set to 14615110; 14566051; 16621965
Phenotypes for gene: CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922; Membrane Cofactor Protein (CD46) deficiency; atypical HUS
Mode of inheritance for gene: CD46 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IUIS Classification February 2018 was added to CD46. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to CD46. Panel: Primary immunodeficiency disorders
Expert Review Amber was added to CD46. Panel: Primary immunodeficiency disorders
ESID Registry 20171117 was added to CD46. Panel: Primary immunodeficiency disorders Phenotypes for gene CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2, Membrane Cofactor Protein (CD46) deficiency
Phenotypes for gene CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2
CD46 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
CD46 was created by Louise Daugherty