Eligibility change form

Fields marked with an * are required. In cases where the information is not applicable, please state N/A.


Please read the information on nominating a disease for inclusion or proposing a change to existing eligibility criteria before you complete this form.

For nominations of new diseases for inclusion in the 100,000 Genomes Project, please complete the Rare Disease Nomination Form.

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 chiefscientist@genomicsengland.co.uk


Please note, you cannot save your responses in this form.

We recommend you have your responses saved elsewhere. You can download the questions in a word document.

If you experience any difficulties when using this form or need further information, contact us at chiefscientist@genomicsengland.co.uk

Section 1. Nominating Organisation or Group

Section 2. Nominator information

You must use your institutional or work email address. Forms will not be accepted from gmail, hotmail, yahoo or any other personal accounts.

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 chiefscientist@genomicsengland.co.uk 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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