Cytopenia - NOT Fanconi anaemia
Gene: CXCR4
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
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
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
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 submittedCreated: 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 submittedCreated: 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; 12692554Created: 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;15536153Created: 6 Feb 2019, 3:13 p.m.
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.
Gene: cxcr4 has been classified as Green List (High Evidence).
Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4
Source North West GLH was added to CXCR4.
Added phenotypes 193670 WHIM syndrome for gene: CXCR4
Source Yorkshire and North East GLH was added to CXCR4.
Added phenotypes 193670 WHIM syndrome for gene: CXCR4 Publications for gene CXCR4 were changed from 12692554; 15536153 to 10767001; 12692554
Source London South GLH was added to CXCR4.
Source NHS GMS was added to CXCR4.
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)
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