Mosaic skin disorders - deep sequencing

Gene: PIK3CA

Green List (high evidence)

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 22 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

C420R, E542K, E545K, E545G, G914R, H1047R. Many others, including truncating variants. Mosaicism 3-30%
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

PIK3CA-related overgrowth syndromes (613089, 612918, 615108, 155500); Vascular malformations; Epidermal naevus (162900)


Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PIK3CA; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 2:50 p.m.

History Filter Activity

5 Dec 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to PIK3CA.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PIK3CA was added gene: PIK3CA was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations