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| Cytopenia - NOT Fanconi anaemia v0.31 | VPS45 | Louise Daugherty commented on gene: VPS45: 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: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285;Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;VPS45 deficiency;Severe congenital neutropenia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | VPS45 | Steve Keeney reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, 615285, Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome, VPS45 deficiency, Severe congenital neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | VPS45 | Louise Daugherty Added phenotypes Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; Neutropenia, severe congenital, 5, autosomal recessive, 615285; Severe congenital neutropenia; VPS45 deficiency for gene: VPS45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | VPS45 | Louise Daugherty Source North West GLH was added to VPS45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | VPS45 | Louise Daugherty commented on gene: VPS45: 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: VPS45; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | VPS45 | Mandy nesbitt reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615285 Neutropenia, severe congenital, 5, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | VPS45 | Louise Daugherty Added phenotypes 615285 Neutropenia, severe congenital, 5, autosomal recessive for gene: VPS45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | VPS45 | Louise Daugherty Source Yorkshire and North East GLH was added to VPS45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | VPS45 | Louise Daugherty commented on gene: VPS45: 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: VPS45; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615285 Neutropenia, severe congenital, 5; PMID(s): 23738510; 23599270 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | VPS45 | Frances Smith reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615285 Neutropenia, severe congenital, 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | VPS45 | Louise Daugherty Added phenotypes 615285 Neutropenia, severe congenital, 5 for gene: VPS45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | VPS45 | Louise Daugherty Source London South GLH was added to VPS45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | VPS45 | Louise Daugherty reviewed gene: VPS45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | VPS45 | Carl Fratter reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | VPS45 | Louise Daugherty Source NHS GMS was added to VPS45. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | VPS45 |
Louise Daugherty Source Expert Review Green was added to VPS45. Mode of inheritance for gene VPS45 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome; Neutropenia, severe congenital, 5, autosomal recessive, 615285; Severe congenital neutropenia; VPS45 deficiency for gene: VPS45 Publications for gene VPS45 were changed from to 23738510; 23599270 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | VPS45 |
Louise Daugherty gene: VPS45 was added gene: VPS45 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: VPS45 was set to |
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