Malformations of cortical development
Gene: PIK3CAEnsemblGeneIds (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
-
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
- Cerebral cavernous malformations 4, somatic, OMIM:619538
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Panels with this gene
-
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Limb disorders
- Hydrocephalus
- Malformations of cortical development
- Fetal anomalies
- Skeletal dysplasia
- Cerebral vascular malformations
- Mosaic skin disorders - deep sequencing
- Hereditary haemorrhagic telangiectasia
- Pigmentary skin disorders
- Segmental overgrowth disorders - Deep sequencing
- Genodermatoses with malignancies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Familial Neural Tube Defects
- DDG2P
- Childhood solid tumours
- Intellectual disability
- Inherited non-medullary thyroid cancer
- Early onset or syndromic epilepsy
History Filter Activity
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: PIK3CA were changed from Polymicrogyria, hemimegalencephaly, macrocephaly to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501; Cerebral cavernous malformations 4, somatic, OMIM:619538
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)PIK3CA was added to Malformations of cortical developmentpanel. Sources: UKGTN
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)PIK3CA was added to Malformations of cortical developmentpanel. Sources: Expert Review
Created
Usha Kini (Oxford Centre for Genomic Medicine)PIK3CA was created by Ushak