GMS Musculoskeletal specialist test group 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

1 review

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, 11:52 a.m.

Mode of inheritance
Mosaicism

Phenotypes
CLOVES 612918

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

Mosaicism

Sources

Expert Review Amber
NHS GMS

Phenotypes

CLOVES 612918

OMIM

171834

Clinvar variants

Variants in PIK3CA

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PIK3CA was added gene: PIK3CA was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PIK3CA was set to Mosaicism Phenotypes for gene: PIK3CA were set to CLOVES 612918

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: PIK3CA