• Non-syndromic hearing loss in proband, AND
• Two or more additional affected family members in at least two generations, of which one must be a first degree relative of the proband and a have a similar or compatible audiometric hearing loss, AND
• Audiometry must be provided on 3 or more affected individuals.
• Features of known syndrome
Prior Genetic Testing:
- 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 AND
- The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:
• All patients must have dominant monoallelic or recessive bi-allelic mutations in GJB2 excluded
• UKGTN gene panel testing is available and should be encouraged
These requirements will be kept under continual review during the main programme and may be subject to change.