Mosaic skin disorders - deep sequencing
Gene: PIK3CAEnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
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
Phenotypes
PIK3CA-related overgrowth syndromes (613089, 612918, 615108, 155500); Vascular malformations; Epidermal naevus (162900)
Publications
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- PIK3CA-related overgrowth syndromes
- Vascular malformations
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb disorders
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- DDG2P
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Malformations of cortical development
- Familial Neural Tube Defects
- Hydrocephalus
- Segmental overgrowth disorders - Deep sequencing
- Childhood solid tumours
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
- Intellectual disability
History Filter Activity
Set publications
Catherine Snow (Genomics England)Publications for gene PIK3CA were changed from to 22499344; 22729224; 29446767; 23100325
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PIK3CA.
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