Rare multisystem ciliopathy disorders


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 Inclusion Criteria:

  • A clinical diagnosis of a rare multisystem ciliopathy including oral-facial-digital syndromes, cranioectodermal dysplasia OR an unclassified rare multisystem ciliopathy based on the presence of two or more core ciliopathy features: two or more core features indicative of a ciliopathy:
    • polycystic or ‘bright’ kidneys;
    • cerebellar hypoplasia (especially vermis where visible) / Dandy-Walker malformation or variant;
    • polydactyly;
    • short limbs and/or short ribs;
    • occipital encephalocele
    • retinal dystrophy

This category would be appropriate for fetuses where they meet the above criteria

 Exclusion Criteria:

  • A known genetic cause.
  • A specific diagnosis of Bardet-Biedl syndrome or other ciliopathy with specific recruitment criteria within the 100,000 Genomes project.

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 dictated by the phenotype including particular consideration of OFD1.

Closing statement

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

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