GT/TP identifiers for the NHSE Digital Genomic Test Service are temporarily visible in PanelApp but are not yet in use in Genomics England systems
  1. Panels
  2. Undiagnosed monogenic disorder seen in a specialist genetics clinic

Undiagnosed monogenic disorder seen in a specialist genetics clinic (Version 1.0)

Level 3: Multi-system groups
Level 2: Ultra-rare disorders

Previous code: 5885e6158f62030903b3eb89
Description
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, multiple panels will be applied for analysis based on the patient’s phenotypes.
Panel Activity

0 Entities

0 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
0 Entitiess

Major version comments

  • 2019-10-07 08:14 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
    Promoted to version 1 so that this panel can be applied in medical review for genome analysis.

Downloads

Download lists

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

Download Version