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Please read the information on nominating a disease for inclusion or proposing a change to existing eligibility criteria before completing this form.
To nominate new rare diseases or tumour types for inclusion in the 100,000 Genomes Project, please complete the Disease Nomination Form. This form is for the rare disease branch of the project only -
we are not currently receiving submissions for cancer eligibility.
Please ensure that your submission of a case to change current disease eligibility criteria is appropriate.
Make sure that you complete all fields with as much detail as possible. If you experience any difficulties when using this form or need further information, contact us at [email protected]
Please Note: you cannot save your responses in this form.
We recommend you have your responses saved elsewhere, for example in a Word document (download the questions)
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype.
Specify if any exceptions to our standard general prior testing requirements should be considered.
You can identify HGNC gene symbols using genenames.org/search.
You can check the status of a list of gene symbols at genenames.org/cgi-bin/symbol_checker. If listing multiple genes, please follow this format example: GPD1L HCN4 KCNE3 SCN1B SCN3B SCN5A
Please email [email protected] with any relevant existing data models, research questionnaires or registry standards that are available.
Please also include the source of these documents in your email. Note that you will be required to submit a more detailed model if your application proceeds to the next stage.
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