Cerebellar hypoplasia

« Back to Disease List

Inclusion Criteria:

  • Cerebellar or ponto-cerebellar hypoplasia on MRI brain scan

Exclusion Criteria:

  • Findings characteristic of Joubert syndrome (in which case recruit to Joubert syndrome category)
  • Known genetic cause
  • Evidence of causative prenatal infection such as CMV (this usually causes more widespread brain abnormalities such as calcification not just cerebellar hypoplasia)

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:

  •   Gene panel including ITPR1, SPTBN2, KCNC3, CASK, OPHN1

Closing statement 
These requirements will be kept under continual review during the main programme and may be subject to change

« Back to Disease List