Congenital neutropaenia
Gene: CXCR4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
WHIM syndrome - warts, hypogammaglobulinaemia, infections, myelokathexis
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Comment when marking as ready: Found associated with phenotype in OMIM, not in G2P. Two expert reviewers recommend Green. Four terminating variants found in unrelated families in the literature.Created: 25 May 2016, 9:20 a.m.
Comment on publications: Four terminating variants found in unrelated familiesCreated: 25 May 2016, 9:11 a.m.
Phenotypes for CXCR4 were set to WHIM syndrome 193670; Myelokathexis, isolated
This gene has been classified as Green List (High Evidence).
CXCR4 was added to Congenital neutropaeniapanel. Sources: Literature,Radboud University Medical Center, Nijmegen
CXCR4All sources for gene: CXCR4 were removed
This gene has been classified as Green List (High Evidence).
Phenotypes for CXCR4 were set to WHIM syndrome - warts, hypogammaglobulinaemia, infections, myelokathexis, 193670
Publications for CXCR4 were set to 12692554; 15536153
This gene has been classified as Green List (High Evidence).
CXCR4 was added to Congenital neutropaeniapanel. Sources: Expert Review
CXCR4 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen,Literature
CXCR4 was added to Congenital neutropaeniapanel. Sources: Literature