Congenital neutropaenia

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 6 panels

3 reviews

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, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • WHIM syndrome 193670
  • Myelokathexis, isolated
OMIM
162643
Clinvar variants
Variants in CXCR4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CXCR4 were set to WHIM syndrome 193670; Myelokathexis, isolated

26 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 May 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

CXCR4 was added to Congenital neutropaeniapanel. Sources: Literature,Radboud University Medical Center, Nijmegen

26 May 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

CXCR4All sources for gene: CXCR4 were removed

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CXCR4 were set to WHIM syndrome - warts, hypogammaglobulinaemia, infections, myelokathexis, 193670

25 May 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CXCR4 were set to 12692554; 15536153

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

CXCR4 was added to Congenital neutropaeniapanel. Sources: Expert Review

25 May 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

CXCR4 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen,Literature

12 Oct 2015, Gel status: 0

Added New Source

Peter Arkwright (Royal Manchester Foundation Trust)

CXCR4 was added to Congenital neutropaeniapanel. Sources: Literature