Cytopenia - NOT Fanconi anaemia
Gene: CXCR2
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
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
Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Phenotypes for gene: CXCR2 were changed from ?WHIM syndrome 2 to ?WHIM syndrome 2, OMIM:619407
Gene: cxcr2 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: CXCR2.
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