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STRs in panel
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COVID-19 research

Gene: RFX5

Green List (high evidence)

RFX5 (regulatory factor X5)
EnsemblGeneIds (GRCh38): ENSG00000143390
EnsemblGeneIds (GRCh37): ENSG00000143390
OMIM: 601863, Gene2Phenotype
RFX5 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): RFX5 .PanelApp HGNC gene symbol check: RFX5 . IUIS Disease: MHC class II deficiency group C . IUIS Inheritance: AR .T cells: N/A, .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.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RFX5, PanelApp HGNC gene symbol check: RFX5, 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: RFX5, GRID_Gene_Symbol: RFX5, GRID_Transcript_ENS_Community submitted: ENST00000290524, GRID_Transcript_RefSeq: NM_000449.3, GRID_Transcript_ENS_used_on_Production: ENST00000290524
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined immunodeficiency; bare lymphocyte syndrome (MHC class II deficiency)

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by an expert reviewer and rated green. More than 3 cases reported in OMIM, for multiple different variants.
Created: 6 Jun 2016, 10:22 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • HLA class II deficiency
  • Combined immunodeficiency
  • Bare lymphocyte syndrome (MHC class II deficiency)
  • Bare lymphocyte syndrome, type II, complementation group E
  • Immunodeficiencies affecting cellular and humoral immunity
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Bare lymphocyte syndrome, type II, complementation group C
OMIM
601863
Clinvar variants
Variants in RFX5
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: RFX5 was added gene: RFX5 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: RFX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX5 were set to 9401005; 7744245 Phenotypes for gene: RFX5 were set to HLA class II deficiency; Combined immunodeficiency; Bare lymphocyte syndrome (MHC class II deficiency); Bare lymphocyte syndrome, type II, complementation group E; Immunodeficiencies affecting cellular and humoral immunity; Respiratory and gastrointestinal infections, liver/biliary tract disease; Bare lymphocyte syndrome, type II, complementation group C