Cytopenias and congenital anaemias
Gene: CXCR4Comment on list classification: Changed status from red to green due to evidence in the literatureCreated: 28 Feb 2017, 12:02 p.m.
Comment on publications: PMID: 12692554, 5 unrelated families with WHIM syndrome, PMID: 15536153 1 family, 2 affecteds.Created: 28 Feb 2017, 12:01 p.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for CXCR4 were set to 12692554; 15536153
Phenotypes for CXCR4 were set to WHIM syndrome, 193670; Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; Severe congenital neutropenia
Phenotypes for CXCR4 were set to WHIM syndrome, 193670; Myelokathexis, isolated;Severe congenital neutropenia
Phenotypes for CXCR4 were set to WHIM syndrome, 193670; Myelokathexis, isolated
Publications for CXCR4 were set to 12692554; 15536153
Mode of inheritance for CXCR4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CXCR4 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
CXCR4 was created by LouiseD