ClinGen Dosage Sensitivity Curation Page

TSC1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000009.11) (NC_000009.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
9242607 van Slegtenhorst et al. (1997): Reports numerous nonsense mutations identified within TSC1 amongst individuals with a clinical diagnosis of tuberous sclerosis.
9924605 Kwiatkowska et al. (1998): Reports two additional nonsense mutations (not previously reported in van Slegtenhorst et al. 1997) identified within TSC1 amongst individuals with a clinical diagnosis of tuberous sclerosis
9803264 Young et al. (1999): Reports several other nonsense mutations identified amongst individuals with a clinical diagnosis of tuberous sclerosis not previously reported in van Slegtenhorst et al.

Haploinsufficiency phenotype comments:

Though the evidence presented here is specific to the tuberous sclerosis phenotype, mutations in TSC1 have also been associated with focal cortical dysplasia (ballon cell type) and lymphangioleiomyomatosis.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity