Phagocyte Defects
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)

Green List (high evidence)

WHIM syndrome-1 (WHIMS1) is an autosomal dominant immunologic disorder characterized by neutropenia, hypogammaglobulinemia, and warts due to human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis.

More than 10 unrelated families reported.
Created: 28 Jul 2021, 7:34 a.m. | Last Modified: 28 Jul 2021, 7:34 a.m.

Panel Version: 0.133

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
WHIM syndrome 1, MIM# 193670

Publications

Created: 28 Jul 2021, 7:34 a.m.
Last Modified: 28 Jul 2021, 7:34 a.m.
Panel version: 0.133

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

WHIM syndrome 1, MIM# 193670

OMIM

162643

Clinvar variants

Variants in CXCR4

Penetrance

None

Publications

Panels with this gene