Activity
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| Bleeding and platelet disorders v1.45 | TBXA2R | Arina Puzriakova Phenotypes for gene: TBXA2R were changed from 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO to {Bleeding disorder, platelet-type, 13, susceptibility to}, OMIM:614009 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | TBXA2R | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | TBXA2R | Louise Daugherty commented on gene: TBXA2R: 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: TBXA2R; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.27 | TBXA2R | Steve Keeney reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.26 | TBXA2R | Louise Daugherty Added phenotypes BDPLT13; 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.24 | TBXA2R | Louise Daugherty Source North West GLH was added to TBXA2R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.23 | TBXA2R | Louise Daugherty commented on gene: TBXA2R: 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: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.22 | TBXA2R | Mandy nesbitt reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.21 | TBXA2R | Louise Daugherty Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.19 | TBXA2R | Louise Daugherty Source Yorkshire and North East GLH was added to TBXA2R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.14 | TBXA2R | Louise Daugherty commented on gene: TBXA2R: 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: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.10 | TBXA2R | Louise Daugherty commented on gene: TBXA2R: 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: TBXA2R; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.9 | TBXA2R | Michael Mitchell reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614009.BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO, BDPLT13; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.8 | TBXA2R | Louise Daugherty Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.7 | TBXA2R | Louise Daugherty Source London South GLH was added to TBXA2R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.6 | TBXA2R | Louise Daugherty reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.5 | TBXA2R | Carl Fratter reviewed gene: TBXA2R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.4 | TBXA2R | Louise Daugherty Source NHS GMS was added to TBXA2R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.3 | TBXA2R |
Louise Daugherty Source Expert Review Green was added to TBXA2R. Mode of inheritance for gene TBXA2R was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes BDPLT13; 614009 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO for gene: TBXA2R Publications for gene TBXA2R were changed from to 22517902; 8972034; 24452735; 30089223; 19828703; 8428006 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Bleeding and platelet disorders v0.2 | TBXA2R |
Louise Daugherty gene: TBXA2R was added gene: TBXA2R was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TBXA2R was set to |
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