| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thrombophilia with a likely monogenic cause v1.16 | PLAT | Arina Puzriakova Phenotypes for gene: PLAT were changed from 612348 Thrombophilia, due to decreased release of PLAT; 612348 Thrombophilia, familial, due to decreased release of PLAT to Thrombophilia, familial, due to decreased release of PLAT, OMIM:612348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.39 | PLAT | Louise Daugherty Classified gene: PLAT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.39 | PLAT | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.39 | PLAT | Louise Daugherty Gene: plat has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.38 | PLAT | Louise Daugherty commented on gene: PLAT: Discrepant reviews, to be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.37 | PLAT | Louise Daugherty commented on gene: PLAT: Follow up email correspondence with Patricia Bignell 13th March (webex 8.03.19 WWMGLH comments v1.doc), on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group, suggested rating Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.36 | PLAT | Louise Daugherty Source Wessex and West Midlands GLH was added to PLAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.35 | PLAT | PATRICIA BIGNELL reviewed gene: PLAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.34 | PLAT | Louise Daugherty commented on gene: PLAT: 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: PLAT; 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: 612348 Thrombophilia, due to decreased release of PLAT; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.33 | PLAT | Steve Keeney reviewed gene: PLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612348 Thrombophilia, due to decreased release of PLAT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.32 | PLAT | Louise Daugherty Added phenotypes 612348 Thrombophilia, due to decreased release of PLAT for gene: PLAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.30 | PLAT | Louise Daugherty Source North West GLH was added to PLAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.29 | PLAT | Louise Daugherty commented on gene: PLAT: 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: PLAT; 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: 612348 Thrombophilia, familial, due to decreased release of PLAT; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.28 | PLAT | Mandy nesbitt reviewed gene: PLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 612348 Thrombophilia, familial, due to decreased release of PLAT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.27 | PLAT | Louise Daugherty Added phenotypes 612348 Thrombophilia, familial, due to decreased release of PLAT for gene: PLAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.25 | PLAT |
Louise Daugherty Source Yorkshire and North East GLH was added to PLAT. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Thrombophilia with a likely monogenic cause v0.18 | PLAT | Louise Daugherty Mode of inheritance for gene: PLAT was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.17 | PLAT | Louise Daugherty Classified gene: PLAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.17 | PLAT | Louise Daugherty Gene: plat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.12 | PLAT | Louise Daugherty reviewed gene: PLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.11 | PLAT | Michael Mitchell reviewed gene: PLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612348 Thrombophilia, due to decreased release of PLAT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.10 | PLAT | Louise Daugherty Added phenotypes 612348 Thrombophilia, due to decreased release of PLAT for gene: PLAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.9 | PLAT | Louise Daugherty Source NHS GMS was added to PLAT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.8 | PLAT |
Louise Daugherty gene: PLAT was added gene: PLAT was added to Thrombophilia. Sources: London South GLH Mode of inheritance for gene: PLAT was set to |
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