Cytopenias and congenital anaemias
Gene: CXCR4

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from red to green due to evidence in the literature
Created: 28 Feb 2017, 12:02 p.m.

Comment on publications: PMID: 12692554, 5 unrelated families with WHIM syndrome, PMID: 15536153 1 family, 2 affecteds.
Created: 28 Feb 2017, 12:01 p.m.

Created: 28 Feb 2017, 12:01 p.m.

Panel version: 0.114

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Severe congenital neutropenia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

WHIM syndrome, 193670
Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated
Severe congenital neutropenia

OMIM

162643

Clinvar variants

Variants in CXCR4

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4