Diabetes with additional phenotypes suggestive of a monogenic aetiology


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Inclusion criteria:

  • Developmental disorder phenotype (e.g. CNS, renal or cardiac) AND
  • Diagnosis of diabetes <25 years AND
  • Not insulin dependent (>=3 without insulin treatment) AND
  • Non-obese (BMI <30)

Exclusion criteria:

  • One or more pancreatic autoantibodies (GAD, IA2, ICA) positive (titre >99th population centile)

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:

  •  MTTL1 testing
  •  Other appropriate single gene tests as suggested by the phenotype,
    eg HNF1B if renal malformation, WFS1 if diabetes insipidus or optic
    atrophy, ALMS1 if obesity or cone-rod dystrophy
  • If the appropriate prior genetic testing is unclear, please go to www.diabetesgenes.org for further information, or consider carrying out a panel test of known diabetes genes.

Closing statement

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

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