Skeletal dysplasia
Gene: PIK3CA

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

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
Mosaicism

Phenotypes
CLOVES 612918

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Details

Sources

NHS GMS

Phenotypes

CLOVES 612918

OMIM

171834

Clinvar variants

Variants in PIK3CA

Penetrance

None

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes CLOVES 612918 for gene: PIK3CA

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: PIK3CA was added gene: PIK3CA was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: PIK3CA was set to

Skeletal dysplasia Gene: PIK3CA