This Panel is marked as Deleted
Polydactyly Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- None
- Panels with this gene
-
- Vascular skin disorders
- DDG2P
- Cerebral vascular malformations
- Malformations of cortical development
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Limb disorders
- Genodermatoses with malignancies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Hydrocephalus
- Neurological segmental overgrowth
- Intellectual disability
- Segmental overgrowth disorders - Deep sequencing
- Familial Neural Tube Defects
- Early onset or syndromic epilepsy
- Fetal anomalies
- Skeletal dysplasia
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Hereditary haemorrhagic telangiectasia
- Multiple monogenic benign skin tumours
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PIK3CA was added to Polydactyly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)PIK3CA was created by Sarah Leigh