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Section 1. Nominating Organisation or Group
Section 2. Nominator information
Section 3. Disease information
Section 4. Scientific and clinical justification for changing existing rare disease eligibility criteria
The following outlines our standard general prior testing requirements that are included in all eligibility statements:
**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.
Give the specific gene tests, using approved HGNC gene symbols, that you should advise occur before recruitment as a means of limiting the rediscovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN (http://ukgtn.nhs.uk/) tests. (All individuals who carry mutations in genes known to predispose to this phenotype are ineligible for inclusion). You can identify HGNC gene symbols using http://www.genenames.org/search . You can check the status of a list of gene symbols at http://www.genenames.org/cgi-bin/symbol_checker. If listing multiple genes, please follow this format example: GPD1L HCN4 KCNE3 SCN1B SCN3B SCN5A
Section 6. Existing data models.
Please email firstname.lastname@example.org 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.