COVID-19 research
Gene: C8A
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Susceptibility to invasive bacterial infection, especially meningococcal
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): C8A .PanelApp HGNC gene symbol check: C8A . IUIS Disease: C8a deficiency . IUIS Inheritance: AR .T cells: Nl to low, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Disseminated neisserial infections. 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 review comment and further publications to support gene-disease associationCreated: 20 Jun 2018, 3:51 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 20 Jun 2018, 3:51 p.m.
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 20 Jun 2018, 3:49 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: C8A, PanelApp HGNC gene symbol check: C8A, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Complement deficiencies / Complement deficiency / Complement component 8 deficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: C8A, GRID_Gene_Symbol: C8A, GRID_Transcript_ENS_Community submitted: ENST00000361249, GRID_Transcript_RefSeq: NM_000562.2, GRID_Transcript_ENS_used_on_Production: ENST00000361249Created: 17 Apr 2018, 12:12 p.m.
gene: C8A was added gene: C8A 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: C8A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C8A were set to 9759902 Phenotypes for gene: C8A were set to Disseminated neisserial infections; Complement component 8 deficiency; C8 deficiency, type I, 613790; Complement Deficiencies; Susceptibility to invasive bacterial infection, especially meningococcal