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  2. Ultra-rare undescribed monogenic disorders

Ultra-rare undescribed monogenic disorders (Version 1.3)

Level 3: Undescribed disorders
Level 2: Ultra-rare disorders

Panel types: Rare Disease 100K
Previous code: 5763f5688f620350a22bcce3
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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This disease category is within the 100,000 Genomes Project, however a single gene panel is not suitable for this disorder. For patients recruited under this disorder, a selection of gene panels will be applied for analysis based on the patient’s phenotypes.

Note: Although this panel has no green entities it is appropriate to apply it to research-focused cohorts
Panel Activity

0 Entities

0 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
0 Entitiess

Major version comments

  • 2019-10-07 08:12 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
    Promoting to version 1 so can be applied within medical review for analysis.

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  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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