Malformations of cortical development
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
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: The majority are post zygotic mosaic mutationsCreated: 15 Dec 2016, 4:36 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria, hemimegalencephaly, macrocephaly
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Polymicrogyria, hemimegalencephaly, macrocephaly
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Panels with this gene
-
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Genodermatoses with malignancies
- Fetal anomalies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Childhood solid tumours
- Familial Neural Tube Defects
- Skeletal dysplasia
- Segmental overgrowth disorders - Deep sequencing
- Limb disorders
- DDG2P
- Inherited non-medullary thyroid cancer
- Pigmentary skin disorders
- Neurological segmental overgrowth
- Malformations of cortical development
- Hereditary haemorrhagic telangiectasia
- Early onset or syndromic epilepsy
History Filter Activity
15 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
15 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
15 Dec 2016, Gel status: 0
Upload gene information
Alice Gardham (Genomics England)PIK3CA was added to Malformations of cortical developmentpanel. Sources: UKGTN
8 Dec 2016, Gel status: 0
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)PIK3CA was added to Malformations of cortical developmentpanel. Sources: Expert Review
8 Dec 2016, Gel status: 0
Created
Usha Kini (Oxford Centre for Genomic Medicine)PIK3CA was created by Ushak