This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R406 Thrombocythaemia' but can also be used as part of the analysis for a broader clinical presentation, where relevant. Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R406 Thrombocythaemia'. A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information). This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number. CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.
Eleanor Williams (Genomics England Curator)
Group: Other
Workplace: Other
Catherine Snow (Genomics England)
Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
JAK2 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
MPL |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
THPO |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
CALR |
2 reviews |
Other |
Sources
Phenotypes
Tags |
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| Amber List (moderate evidence) |
SH2B3 |
2 reviews1 red |
Other |
Sources
Phenotypes
Tags |
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2020-09-30 10:05 Arina Puzriakova (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.11) was signed off under NHS Genomic Medicine Service governance on (30/09/2020). The panel was promoted to the next major version (version 1.0) as a result of this.