IBMDx study
Gene: CXCR4EnsemblGeneIds (GRCh38): ENSG00000121966
EnsemblGeneIds (GRCh37): ENSG00000121966
OMIM: 162643, Gene2Phenotype
CXCR4 is in 9 panels
2 reviews
vahid pazhakh (Peter MacCallum Cancer Centre)
Three different studies [PMID: 12692554, 15536153, 23009155] have identified various heterozygous nonsense mutations in CXCR4 genes in probands with WHIMS1 from more than 10 unrelated pedigrees. Various in vitro studies and animal models demonstrated that CXCR4 mutations cause impaired CXCL12-induced internalization and desensitization of CXCR4 [PMID 18274673, 12692554] and that mutated CXCR4 increases apoptosis in HSCs [PMID: 28928741, 16946301, 17715292].Created: 9 Feb 2022, 11:28 p.m. | Last Modified: 9 Feb 2022, 11:28 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
WHIM syndrome, MIM# 193670
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- IBMDx Study
- Victorian Clinical Genetics Services
- Phenotypes
-
- WHIM syndrome, MIM# 193670
- OMIM
- 162643
- Clinvar variants
- Variants in CXCR4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cxcr4 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CXCR4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CXCR4 was added gene: CXCR4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: CXCR4 was set to Unknown Phenotypes for gene: CXCR4 were set to WHIM syndrome, MIM# 193670