This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
-
- Other
- Phenotypes
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- CLOVE syndrome, somatic, 612918
- congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities
- Nevus, epidermal, somatic, 162900
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Publications
- Panels with this gene
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- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- 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
- Fetal anomalies
- Skeletal dysplasia
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
History Filter Activity
11 May 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)PIK3CA was added to Undiagnosed neurocutaneous disorderspanel. Sources: Other
11 May 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)PIK3CA was created by rfoulger