Bone Marrow Failure
Gene: CXCR4

CXCR4 (C-X-C motif chemokine receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000121966
EnsemblGeneIds (GRCh37): ENSG00000121966
OMIM: 162643, Gene2Phenotype
CXCR4 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

WHIM syndrome is an immunodeficiency disease characterized by neutropaenia, hypogammaglobulinaemia, and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropaenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions.

More than 5 unrelated families reported.
Created: 15 Jun 2021, 10:53 a.m. | Last Modified: 15 Jun 2021, 10:53 a.m.

Panel Version: 0.239

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
WHIM syndrome, MIM# 193670

Publications

12692554

Created: 15 Jun 2021, 10:53 a.m.
Last Modified: 15 Jun 2021, 10:53 a.m.
Panel version: 0.239

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

WHIM syndrome, MIM# 193670

OMIM

162643

Clinvar variants

Variants in CXCR4

Penetrance

None

Publications

12692554

Panels with this gene