| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bleeding and platelet disorders v0.52 | DIAPH1 | Louise Daugherty edited their review of gene: DIAPH1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.33 | DIAPH1 | Louise Daugherty edited their review of gene: DIAPH1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | DIAPH1 | Louise Daugherty edited their review of gene: DIAPH1: Added comment: As discussed in the GMS Haematology Specialist Test Group webex call 8th February 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | DIAPH1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | DIAPH1 | Louise Daugherty commented on gene: DIAPH1: 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: DIAPH1; 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, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.27 | DIAPH1 | Steve Keeney reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.26 | DIAPH1 | Louise Daugherty Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.24 | DIAPH1 | Louise Daugherty Source North West GLH was added to DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.23 | DIAPH1 | Louise Daugherty commented on gene: DIAPH1: 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: DIAPH1; Suggested intial 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, imprinted status unknown; Phenotypes: 124900 Macrothrombocytopenia and hearing loss; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.22 | DIAPH1 | Mandy nesbitt reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 124900 Macrothrombocytopenia and hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.21 | DIAPH1 | Louise Daugherty Added phenotypes 124900 Macrothrombocytopenia and hearing loss for gene: DIAPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.19 | DIAPH1 | Louise Daugherty Source Yorkshire and North East GLH was added to DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.14 | DIAPH1 | Louise Daugherty commented on gene: DIAPH1: 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: DIAPH1; 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, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.10 | DIAPH1 | Louise Daugherty commented on gene: DIAPH1: 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: DIAPH1; 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, imprinted status unknown; Phenotypes: Macrothrombocytopenia and hearing loss (NO OMIM NUMBER); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.9 | DIAPH1 | Michael Mitchell reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Macrothrombocytopenia and hearing loss, (NO OMIM NUMBER); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.8 | DIAPH1 | Louise Daugherty Added phenotypes Macrothrombocytopenia and hearing loss for gene: DIAPH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.7 | DIAPH1 | Louise Daugherty Source London South GLH was added to DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.6 | DIAPH1 | Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.5 | DIAPH1 | Carl Fratter reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.4 | DIAPH1 | Louise Daugherty Source NHS GMS was added to DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.3 | DIAPH1 |
Louise Daugherty Source Expert Review Green was added to DIAPH1. Mode of inheritance for gene DIAPH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes (NO OMIM NUMBER); Macrothrombocytopenia and hearing loss for gene: DIAPH1 Publications for gene DIAPH1 were changed from to 28815995; 26912466; 27707755 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Bleeding and platelet disorders v0.2 | DIAPH1 |
Louise Daugherty gene: DIAPH1 was added gene: DIAPH1 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: DIAPH1 was set to |
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