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| Bleeding and platelet disorders v1.42 | GBA | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.42 | GBA | Sarah Leigh Tag new-gene-name tag was added to gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.42 | GBA | Sarah Leigh commented on gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | GBA | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | GBA | Louise Daugherty commented on gene: GBA: 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: GBA; 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: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted. Comment: Think appropriate as Gauchers indocation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.27 | GBA | Steve Keeney reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.26 | GBA | Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.24 | GBA | Louise Daugherty Source North West GLH was added to GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.23 | GBA | Louise Daugherty commented on gene: GBA: 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: GBA; 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: 230800 Gaucher disease, type I;230900 Gaucher disease, type II; 231000 Gaucher disease, type III; 231005 Gaucher disease, type IIIC; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.22 | GBA | Mandy nesbitt reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.21 | GBA | Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.19 | GBA | Louise Daugherty Source Yorkshire and North East GLH was added to GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.14 | GBA | Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; 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: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.10 | GBA | Louise Daugherty commented on gene: GBA: Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GBA; 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: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.9 | GBA | Michael Mitchell reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 230800 Gaucher disease, type I, 230900 Gaucher disease, type II, 231000 Gaucher disease, type III, 231005 Gaucher disease, type IIIC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.8 | GBA | Louise Daugherty Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.7 | GBA | Louise Daugherty Source London South GLH was added to GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.6 | GBA | Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.5 | GBA | Carl Fratter reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.4 | GBA | Louise Daugherty Source NHS GMS was added to GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.3 | GBA |
Louise Daugherty Source Expert Review Green was added to GBA. Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 230900 Gaucher disease, type II; 231005 Gaucher disease, type IIIC; 231000 Gaucher disease, type III; 230800 Gaucher disease, type I for gene: GBA Publications for gene GBA were changed from to 27265538; 27816428; 20575041 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Bleeding and platelet disorders v0.2 | GBA |
Louise Daugherty gene: GBA was added gene: GBA was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GBA was set to |
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