Description
Classical tuberous sclerosis inclusion criteria (29542)
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.

Classical tuberous sclerosis exclusion criteria (29542)
Prior genetic testing guidance (29542)
- 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.

Classical tuberous sclerosis prior genetic testing genes (29542)
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 (29542)
These requirements will be kept under continual review during the main programme and may be subject to change.



2 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

2 Entities

2 reviewed, 2 green

List Entity Reviews Mode of inheritance Details
2 Entitiess
Green Green List (high evidence)
TSC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Focal cortical dysplasia, Taylor balloon cell type, 607341Lymphangioleiomyomatosis, 606690Tuberous sclerosis-1, 191100
  • Tuberous Sclerosis
Tags
Green Green List (high evidence)
TSC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Tuberous sclerosis-2, 613254
  • Tuberous Sclerosis
Tags

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