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COVID-19 research

Gene: RFXANK

Green List (high evidence)

RFXANK (regulatory factor X associated ankyrin containing protein)
EnsemblGeneIds (GRCh38): ENSG00000064490
EnsemblGeneIds (GRCh37): ENSG00000064490
OMIM: 603200, Gene2Phenotype
RFXANK is in 3 panels

5 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

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): 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 Immunodeficiency
Created: 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 evidence
Created: 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 deficiency
Created: 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: ENST00000303088
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • 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
OMIM
603200
Clinvar variants
Variants in RFXANK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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