CXCR4

C-X-C motif chemokine receptor 4
OMIM: 162643
PanelMode of inheritanceDetails
2 panels
R-numbers: R91
Signed-off version 1.29
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated, 193670 WHIM syndrome, WHIM syndrome, 193670, Severe congenital neutropenia
R-numbers: R15
Signed-off version 2.1
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