Skeletal dysplasiaGene: PIK3CA
Overgrowth (tall stature) syndromes with skeletal involvement. somatic mosaic in affected tissue, absent from blood - ? Test sensitivity. Germline variants associated with Cowden syndrome. red due to inappropriate test? Note added by AW - PIGT yes Clear skeletal features, eg Lam Mol Genet Metaboism 15.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
Mode of pathogenicity
Other - please provide details in the comments
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PIK3CA; Initial rating suggestion: I don't know
Created: 6 Mar 2019, 11:36 a.m.
Added phenotypes CLOVES 612918 for gene: PIK3CA
gene: PIK3CA was added gene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: PIK3CA was set to