Phagocyte Defects
Gene: CXCR2EnsemblGeneIds (GRCh38): ENSG00000180871
EnsemblGeneIds (GRCh37): ENSG00000180871
OMIM: 146928, Gene2Phenotype
CXCR2 is in 2 panels
2 reviews
Peter McNaughton (Queensland Children's Hospital)
4 unrelated patients with neutropaeniaCreated: 12 Jul 2022, 6:44 a.m. | Last Modified: 12 Jul 2022, 6:44 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neutropaenia
Publications
- PMID: 34854278
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Expert listCreated: 9 Jul 2021, 4:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WHIM syndrome 2 619407
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- WHIM syndrome 2 619407
- OMIM
- 146928
- Clinvar variants
- Variants in CXCR2
- 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: cxcr2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cxcr2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CXCR2 was added gene: CXCR2 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CXCR2 were set to 24777453 Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407 Review for gene: CXCR2 was set to RED