Congenital neutropaenia
Gene: CXCR4EnsemblGeneIds (GRCh38): ENSG00000121966
EnsemblGeneIds (GRCh37): ENSG00000121966
OMIM: 162643, Gene2Phenotype
CXCR4 is in 4 panels
3 reviews
Sophie Hambleton (Newcastle University)
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
Peter Arkwright (Royal Manchester Foundation Trust)
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- WHIM syndrome 193670
- Myelokathexis, isolated
- OMIM
- 162643
- Clinvar variants
- Variants in CXCR4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CXCR4 were set to WHIM syndrome 193670; Myelokathexis, isolated
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CXCR4 was added to Congenital neutropaeniapanel. Sources: Literature,Radboud University Medical Center, Nijmegen
clearsources
Sarah Leigh (Genomics England Curator)CXCR4All sources for gene: CXCR4 were removed
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CXCR4 were set to WHIM syndrome - warts, hypogammaglobulinaemia, infections, myelokathexis, 193670
Set publications
Sarah Leigh (Genomics England Curator)Publications for CXCR4 were set to 12692554; 15536153
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CXCR4 was added to Congenital neutropaeniapanel. Sources: Expert Review
Upload gene information
Sarah Leigh (Genomics England Curator)CXCR4 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen,Literature
Added New Source
Peter Arkwright (Royal Manchester Foundation Trust)CXCR4 was added to Congenital neutropaeniapanel. Sources: Literature