Single autosomal recessive mutation in rare disease


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Single autosomal recessive mutation in rare disease Inclusion Criteria

  • Proband has a rare autosomal recessive monogenic disease, AND
  • A likely pathogenic variant* has been identified on one allele, AND
  • No likely pathogenic variant has been detected on the second allele, AND
  • Standardly available clinical testing has been performed of full coding regions (including MLPA where available)

Where the disease falls into another disease category, please recruit to that category
*A likely pathogenic variant corresponds to an ACMG class 4 or 5 variant

Single autosomal recessive mutation in rare disease 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.

Single autosomal recessive mutation in rare disease prior genetic testing genes

  • No genes listed

Closing statement

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

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