ClinGen Dosage Sensitivity Curation Page

PIK3CA

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

At this time there is no evidence to support the haploinsufficiency of PIK3CA. Mutations in PIK3CA have been associated with Cowden syndrome 5 (OMIM # 615108), Clove syndrome (OMIM # 612918), and Megalencephaly-capillary malformation-polymicrogyria syndrome (OMIM # 602501); however these syndromes are associated with PIK3CA gain-of-function missense mutations. There are currently no reported whole gene deletions of PIK3CA.

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

Triplosensitivity phenotype comment:

At this time there is no evidence to support the triplosensitivity of PIK3CA.