| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thrombophilia with a likely monogenic cause v1.10 | HRG | Arina Puzriakova Phenotypes for gene: HRG were changed from 613116 Thrombophilia due to HRG deficiency to Thrombophilia due to HRG deficiency, OMIM:613116 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.34 | HRG | Louise Daugherty commented on gene: HRG: 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: HRG; 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: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.33 | HRG | Steve Keeney reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613116 Thrombophilia due to HRG deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.32 | HRG | Louise Daugherty Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.30 | HRG | Louise Daugherty Source North West GLH was added to HRG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.29 | HRG | Louise Daugherty commented on gene: HRG: 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: HRG; Suggested intial 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: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.28 | HRG | Mandy nesbitt reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613116 Thrombophilia due to HRG deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.27 | HRG | Louise Daugherty Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.25 | HRG | Louise Daugherty Source Yorkshire and North East GLH was added to HRG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.12 | HRG | Louise Daugherty commented on gene: HRG: 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: HRG; Suggested intial 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: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.11 | HRG | Michael Mitchell reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613116 Thrombophilia due to HRG deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.10 | HRG | Louise Daugherty Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.8 | HRG | Louise Daugherty Source London South GLH was added to HRG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.6 | HRG | Louise Daugherty reviewed gene: HRG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.5 | HRG | Carl Fratter reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.4 | HRG | Louise Daugherty Source NHS GMS was added to HRG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.3 | HRG |
Louise Daugherty Source Expert Review Green was added to HRG. Mode of inheritance for gene HRG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Thrombophilia with a likely monogenic cause v0.2 | HRG |
Louise Daugherty gene: HRG was added gene: HRG was added to Thrombophilia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HRG was set to |
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