Description
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'.

The content of this panel (version 1.1: https://panelapp.genomicsengland.co.uk/api/v1/panels/945/?version=1.1) was signed off under NHS Genomic Medicine Service governance on (30/09/2020).

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 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.

3 reviewers

  • 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

5 Entities

5 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
5 Entitiess
Green Green List (high evidence)
JAK2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Thrombocythemia 3, 614521
Tags
  • somatic
Green Green List (high evidence)
MPL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Thrombocythemia 2, 601977
Tags
Green Green List (high evidence)
THPO
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Thrombocythemia 1, 187950
Tags
Amber Amber List (moderate evidence)
CALR
2 reviews
Other
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Thrombocythemia, somatic, 187950
  • Myelofibrosis, somatic, 254450
Tags
  • somatic
Amber Amber List (moderate evidence)
SH2B3
2 reviews
1 red
Other
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Thrombocythemia, somatic, 187950
Tags
  • somatic

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