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STRs in panel
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COVID-19 research

Gene: CXCR4

Green List (high evidence)

CXCR4 (C-X-C motif chemokine receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000121966
EnsemblGeneIds (GRCh37): ENSG00000121966
OMIM: 162643, Gene2Phenotype
CXCR4 is in 5 panels

6 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): CXCR4 .PanelApp HGNC gene symbol check: CXCR4 . IUIS Disease: WHIM (Warts, Hypogammaglobulinemia, infections, Myelokathexis) syndrome . IUIS Inheritance: AD GOF .T cells: Increased DN T cells , .B cells: N/A, .IUIS Other affected cells: Granulocytes + Lymphocytes. IUIS Associated features: Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: Epidermodysplasia verruciformis (HPV)
Created: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CXCR4, PanelApp HGNC gene symbol check: CXCR4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Warts hypogammaglobulinemia infections and myelokathexis (WHIM) / Warts hypogammaglobulinemia infections and myelokathexis (WHIM)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CXCR4, GRID_Gene_Symbol: CXCR4, GRID_Transcript_ENS_Community submitted: ENST00000409817, GRID_Transcript_RefSeq: NM_003467.2, GRID_Transcript_ENS_used_on_Production: ENST00000409817
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
WHIM syndrome - warts, hypogammaglobulinaemia, infections, myelokathexis

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Found associated with phenotype in OMIM, not in G2P. Two expert reviewers recommend Green. Four terminating variants found in unrelated families in the literature.
Created: 25 May 2016, 9:20 a.m.
Comment on publications: Four terminating variants found in unrelated families
Created: 25 May 2016, 9:11 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Myelokathexis, isolated
  • Warts hypogammaglobulinemia infections and myelokathexis (WHIM)
  • WHIM syndrome, 193670
  • WHIM syndrome
  • Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia
  • Defects in Intrinsic and Innate Immunity
OMIM
162643
Clinvar variants
Variants in CXCR4
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene CXCR4 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Myelokathexis, isolated; Warts hypogammaglobulinemia infections and myelokathexis (WHIM); WHIM syndrome, 193670; WHIM syndrome; Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia; Defects in Intrinsic and Innate Immunity for gene: CXCR4 Publications for gene CXCR4 were updated from to 12692554; 15536153

31 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CXCR4 was added gene: CXCR4 was added to Viral susceptibility. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CXCR4 was set to Unknown