Cytopenia - NOT Fanconi anaemia
Gene: CXCR2EnsemblGeneIds (GRCh38): ENSG00000180871
EnsemblGeneIds (GRCh37): ENSG00000180871
OMIM: 146928, Gene2Phenotype
CXCR2 is in 2 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:24 p.m. | Last Modified: 6 Dec 2024, 12:24 p.m.
Panel Version: 3.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases available in support of the association of biallelic CXCR2 variants to this panel. Hence, this gene can be promoted to green rating in the next GMS review.Created: 12 Oct 2023, 11:04 a.m. | Last Modified: 12 Oct 2023, 11:04 a.m.
Panel Version: 3.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?WHIM syndrome 2, OMIM:619407
Hannah Knight (NIHR BioResource - University of Cambridge)
Five patients reported with biallelic variants. 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene (PMID: 24777453). Of other four patients, one had biallelic null variants and presented with neutropenia and myelokathexis (PMID: 34854278). Others all had biallelic missense variants, and presented with neutropenia
Sources: LiteratureCreated: 9 Oct 2023, 9:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?WHIM syndrome 2
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ?WHIM syndrome 2, OMIM:619407
- OMIM
- 146928
- Clinvar variants
- Variants in CXCR2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: CXCR2. Tag Q4_23_NHS_review was removed from gene: CXCR2.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to CXCR2. Source NHS GMS was added to CXCR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CXCR2 were changed from ?WHIM syndrome 2 to ?WHIM syndrome 2, OMIM:619407
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cxcr2 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: CXCR2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: CXCR2 was added gene: CXCR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CXCR2 were set to 24777453; 34854278 Phenotypes for gene: CXCR2 were set to ?WHIM syndrome 2 Review for gene: CXCR2 was set to GREEN