Classical tuberous sclerosis

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Inclusion criteria

2 major or 1 major and >=2 minor criteria:

– Major features – Hypomelanotic macules (>=3 at least 5-mm diameter)

– Angiofibromas (>=3) or fibrous cephalic plaque

– Ungual fibromas (>=2)

– Shagreen patch

– Multiple retinal hamartomas

– Cortical dysplasias (tubers or cerebral white matter radial migration lines)

– Subependymal nodules

– Subependymal giant cell astrocytoma

– Cardiac rhabdomyoma

– Lymphangioleiomyomatosis (LAM)

– Renal angiomyolipomas (>=2)


Minor features

– Confetti skin lesions

– Dental enamel pits (>3)

– Intraoral fibromas (>=2)

– Retinal achromic patch

– Multiple renal cysts

– Nonrenal hamartomas

AND – Participants who have not undergone prior genetic testing of TSC1 and TSC2 should be recruited initially as singletons. In families where analysis as a singleton does not lead to identification of the underlying causative mutation, recruitment of additional affected family members is encouraged.


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: TSC1, TSC2

Closing statement

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

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