- Rare distinctive phenotype
- There is a high chance of a monogenic basis for the disorder as assessed by presentation and family history
- Phenotype can include distinctive, undescribed imaging, biopsy or biochemical findings
- Family has been reviewed by a 100,000 Genomes Project-focused multidisciplinary team (MDT) within the GMC and approved for recruitment
- The GMC recruiting the patient has not exceeded its cap on recruitment to ultra-rare undescribed monogenic disorders. It is the responsibility of the GMC rare disease lead to oversee adherence to this cap
- The depth of phenotype data supplied is equivalent to the disease-specific data models
- The disorder has been allocated to a disease-facing GeCIP domain to provide support for clinical interpretation
- Patient would be eligible for recruitment under existing disease-specific Eligibility Criteria
- Multiple families with similar phenotypes are available for recruitment; this phenotype should be proposed using the disease nomination form to develop disease-specific eligibility criteria
- (Please contact email@example.com for advice if this is unclear for this family)
- Patient’s phenotype has been previously assessed by Genomics England and considered out of scope for the programme
Prior genetic testing guidance:
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes:
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
– As per phenotype, according to recommendation of GMC MDT
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List