COVID-19 research
Gene: RFXANK
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
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): RFXANK .PanelApp HGNC gene symbol check: RFXANK . IUIS Disease: MHC class II deficiency group B . IUIS Inheritance: AR .T cells: Normal or Increased activated T cells, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Respiratory and gastrointestinal infections, liver/biliary tract disease. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined ImmunodeficiencyCreated: 2 Jul 2018, 10:35 a.m.
Review made by Ellen McDonagh (Genomics England Curator) 6 Jun 2016, 11:51 a.m. PMID: 11313409 - case study of a North African patient with MHC class II deficiency homozygous 1-bp transversion (G to C) that abolished the splice site downstream of exon 4 of the RFXANK gene PMID:12618906 - two novel missense variants PMID: 22863278 - 9 out of 11 unrelated Algerian patients with histocompatibility complex class II expression deficiency had a 26 bp deletion (named I5E6-25_I5E6+1, also known as 752delG26). PMID: 20414676 - ten unrelated Moroccan patients with MHC class II deficiency all had the same homozygous 752delG26 mutation. PMID: 9806546 - functional evidenceCreated: 18 Apr 2018, 3:48 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RFXANK, PanelApp HGNC gene symbol check: RFXANK, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / HLA class II deficiency / HLA class II deficiencyCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: RFXANK, GRID_Gene_Symbol: RFXANK, GRID_Transcript_ENS_Community submitted: ENST00000303088, GRID_Transcript_RefSeq: NM_003721.3, GRID_Transcript_ENS_used_on_Production: ENST00000303088Created: 17 Apr 2018, 12:12 p.m.
Comment on list classification: Gene added by a reviewer and rated green. Large deletions in this gene have been reported in patients of North African origin, however missense and splice variants have also been reported.
Created: 6 Jun 2016, 10:51 a.m.
Phenotypes for gene: RFXANK were changed from HLA class II deficiency; Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome); MHC class II deficiency, complementation group B; Immunodeficiencies affecting cellular and humoral immunity; Respiratory and gastrointestinal infections, liver/biliary tract disease to MHC class II deficiency, complementation group B, OMIM:209920; HLA class II deficiency; Respiratory and gastrointestinal infections, liver/biliary tract disease; Immunodeficiencies affecting cellular and humoral immunity
gene: RFXANK was added gene: RFXANK was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFXANK were set to 22863278; 11313409; 12618906; 20414676; 9806546 Phenotypes for gene: RFXANK were set to HLA class II deficiency; Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome); MHC class II deficiency, complementation group B; Immunodeficiencies affecting cellular and humoral immunity; Respiratory and gastrointestinal infections, liver/biliary tract disease