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100kGP disease models

Over 190 rare diseases were included in the 100,000 Genomes Project. People invited to take part were believed to have one of these conditions, may have had a provisional diagnosis, but not a molecular diagnosis. A molecular diagnosis is based on a genetic test result rather than on signs or symptoms.

The list of rare diseases included in the project can be obtained from this pdf

Eligibility Guides to the 100,000 Genomes Project, by disease type:

  • Cardiologists’ guide (PDF)
  • Dermatologists’ guide (Word)
  • Neurologists’ guide (Word)
  • Ophalmologists’ guide (Word)
  • Renal disease guide (Word)
  • Respiratory disease (Word)
  • Eligibility Wheels (via HEE website, opens in a new tab) – tools to help identify eligible participants
  • The rare diseases guide

Rare disease eligibility criteria

  • List of Rare Diseases GMC version (PDF
  • Rare Disease Data Models (PDF)
  • Latest Rare Disease Conditions Model Pack (ZIP)
  • Guidelines on who to recruit from a rare disease family (PDF)
  • Guidelines for rare disease model development and review (PDF)
  • Genomics England Rare Disease Results Guide (PDF)
  • The 100,000 Genomes Project Protocol