Cytopenia - NOT Fanconi anaemia

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 5 panels

5 reviews

Steve Keeney (Central Manchester Foundation Trust)

Green List (high evidence)

Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.
Created: 18 Feb 2019, 2:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
WHIM syndrome, 193670; Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; Severe congenital neutropenia

Mandy nesbitt (Healthcare Professional)

I don't know

Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.
Created: 14 Feb 2019, 5:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
193670 WHIM syndrome

Frances Smith (King's College Hospital)

Green List (high evidence)

Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.
Created: 8 Feb 2019, 1:37 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
193670 WHIM syndrome

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Created: 22 Jul 2019, 11:39 a.m. | Last Modified: 22 Jul 2019, 11:39 a.m.
Panel Version: 0.60
Discrepant reviews for CXCR4 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.
Created: 22 Jul 2019, 11:39 a.m. | Last Modified: 22 Jul 2019, 11:39 a.m.
Panel Version: 0.59
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: WHIM syndrome, 193670;Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated;Severe congenital neutropenia; PMID(s): none submitted
Created: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 193670 WHIM syndrome; PMID(s): none submitted
Created: 14 Feb 2019, 5:40 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 193670 WHIM syndrome; PMID(s): 10767001; 12692554
Created: 8 Feb 2019, 1:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CXCR4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: WHIM syndrome, 193670;Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated;Severe congenital neutropenia; PMID(s): 12692554;15536153
Created: 6 Feb 2019, 3:13 p.m.

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 3:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated
  • 193670 WHIM syndrome
  • WHIM syndrome, 193670
  • Severe congenital neutropenia
OMIM
162643
Clinvar variants
Variants in CXCR4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4

18 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to CXCR4.

14 Feb 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes 193670 WHIM syndrome for gene: CXCR4

14 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CXCR4.

8 Feb 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes 193670 WHIM syndrome for gene: CXCR4 Publications for gene CXCR4 were changed from 12692554; 15536153 to 10767001; 12692554

8 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to CXCR4.

6 Feb 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CXCR4.

6 Feb 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CXCR4. Mode of inheritance for gene CXCR4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4 Publications for gene CXCR4 were changed from to 12692554; 15536153 Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CXCR4 was added gene: CXCR4 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CXCR4 was set to