ClinGen Dosage Sensitivity Curation Page

PTEN

  • Curation Status: Complete

Location Information

Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: 3
  • Strength of Evidence (disclaimer): Sufficient evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Loss of function mutations in PTEN are associated with macrocephaly and autism as well as hamartomatous tumor syndromes such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome.

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