- Diagnosis of PTCD on MRI brain scan – characteristic neuroimaging features are flattening of ventral pons, dorsal pontine ‘cap’, hypoplastic or absent middle and inferior cerebellar peduncles and hypoplastic vermis.
- Sensorineural deafness due to absence of 8th cranial nerve with or without corneal anaesthesia due to trigeminal sensory dysfunction.
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:
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List