ClinGen Genome Curation Page

PTEN

  • Curation Status: Complete

Location Information

  • 10q23.31
  • GRCh37/hg19 chr10: 89,623,195-89,728,532
  • View: NCBI | Ensembl | UCSC

GRCh37/hg19 chr10: 89,623,195-89,728,532 (NC_000010.10)

  • 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 available