Mosaic skin disorders - deep sequencingGene: PIK3CA
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)
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.
Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325
Source London North GLH was added to PIK3CA.
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