Genodermatoses with malignancies
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
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review
- Phenotypes
-
- One publication showing mutations in Cowden. Await confirmation.
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Publications
-
- PMID: 23246288
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Hereditary haemorrhagic telangiectasia
- Multiple monogenic benign skin tumours
- Skeletal dysplasia
- Limb disorders
- Vascular skin disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Cerebral vascular malformations
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Neurological segmental overgrowth
- Segmental overgrowth disorders - Deep sequencing
- Malformations of cortical development
- Familial Neural Tube Defects
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
History Filter Activity
28 Feb 2016, Gel status: 0
Created
Ellen Thomas (Genomics England Curator)PIK3CA was created by EllenThomas
28 Feb 2016, Gel status: 0
Added New Source
Ellen Thomas (Genomics England Curator)PIK3CA was added to Genodermatoses with malignanciespanel. Sources: Expert Review