Genomics England
GMS Panels
Panels
Genes and Entities

CXCR4

C-X-C motif chemokine receptor 4
OMIM: 162643
PanelMode of inheritanceDetails
2 panels
Green
in Cytopenia - NOT Fanconi anaemia
R-numbers: R91
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated, 193670 WHIM syndrome, WHIM syndrome, 193670, Severe congenital neutropenia
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WHIM syndrome, 193670, Myelokathexis, isolated, WHIM syndrome, Warts hypogammaglobulinemia infections and myelokathexis (WHIM), Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia, Defects in Intrinsic and Innate Immunity