Undiagnosed neurocutaneous disorders


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 Inclusion criteria:

All of the following:

  • Abnormal skin pigmentation (café au lait pigmentation, or hypopigmentation, or both)
  • Affected individual has a family history of abnormal skin pigmentation in a first degree relative or is the offspring of a consanguineous relationship
  • Neurological phenotype in at least two of the family members who have skin pigmentary abnormalities (seizures or developmental delay or evidence of congenital abnormality on MRI scan)
  • No diagnosis after assessment by Dermatologist, Neurologist and Geneticist
  • No evidence of chromosomal abnormality on karyotype
  • No pathogenic mutations in the NF1 gene if the child is too young to definitely exclude neurofibromatosis type 1 clinically, and the phenotype could potentially be compatible with that diagnosis

 Exclusion criteria:

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:

  • NF1 as indicated above

 Closing statement

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

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