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BabyScreen+ newborn screening

Gene: CXCR4

Green List (high evidence)
CXCR4 (C-X-C motif chemokine receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000121966
EnsemblGeneIds (GRCh37): ENSG00000121966
OMIM: 162643, Gene2Phenotype
CXCR4 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

WHIM syndrome is an immunodeficiency disease characterized by neutropaenia, hypogammaglobulinaemia, and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropaenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions. More than 5 unrelated families reported.

Onset in infancy or early childhood.

Treatment: prophylactic antibiotics, granulocyte colony-stimulating factor (G-CSF), replacement immunoglobulin treatment, Plerixafor, Bone marrow transplant (hematopoietic stem cell transplantation (HSCT))
Created: 2 Nov 2022, 8:55 p.m. | Last Modified: 2 Nov 2022, 8:55 p.m.
Panel Version: 0.785

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
WHIM syndrome, MIM# 193670

Created: 2 Nov 2022, 8:55 p.m.
Last Modified: 2 Nov 2022, 8:55 p.m.
Panel version: 0.785

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • WHIM syndrome 1, MIM# 193670
Tags
treatable immunological
OMIM
162643
Clinvar variants
Variants in CXCR4
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag immunological tag was added to gene: CXCR4.

2 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cxcr4 has been classified as Green List (High Evidence).

2 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CXCR4.

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CXCR4 was added gene: CXCR4 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CXCR4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CXCR4 were set to WHIM syndrome 1, MIM# 193670