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| Cytopenia - NOT Fanconi anaemia v0.60 | CXCR4 | Louise Daugherty Classified gene: CXCR4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.60 | CXCR4 | Louise Daugherty Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.60 | CXCR4 | Louise Daugherty Gene: cxcr4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.59 | CXCR4 | Louise Daugherty commented on gene: CXCR4: Discrepant reviews for CXCR4 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | CXCR4 | Louise Daugherty commented on gene: CXCR4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | CXCR4 | Steve Keeney reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: WHIM syndrome, 193670, Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated, Severe congenital neutropenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | CXCR4 | Louise Daugherty Added phenotypes Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated; WHIM syndrome, 193670; Severe congenital neutropenia for gene: CXCR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | CXCR4 | Louise Daugherty Source North West GLH was added to CXCR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | CXCR4 | Louise Daugherty commented on gene: CXCR4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | CXCR4 | Mandy nesbitt reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 193670 WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | CXCR4 | Louise Daugherty Added phenotypes 193670 WHIM syndrome for gene: CXCR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | CXCR4 | Louise Daugherty Source Yorkshire and North East GLH was added to CXCR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | CXCR4 | Louise Daugherty commented on gene: CXCR4: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | CXCR4 | Frances Smith reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 193670 WHIM syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | CXCR4 |
Louise Daugherty Added phenotypes 193670 WHIM syndrome for gene: CXCR4 Publications for gene CXCR4 were changed from 12692554; 15536153 to 10767001; 12692554 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | CXCR4 | Louise Daugherty Source London South GLH was added to CXCR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | CXCR4 | Louise Daugherty reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | CXCR4 | Carl Fratter reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | CXCR4 | Louise Daugherty Source NHS GMS was added to CXCR4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | CXCR4 |
Louise Daugherty 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) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | CXCR4 |
Louise Daugherty 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 |
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