This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: On the UKGTN Hereditary Cancers 82 Gene Panel, Familia Breast/Ovarian Cancer subsection. Seems to be somatic?Created: 18 Apr 2017, 1:32 p.m.
Mode of inheritance
Unknown
Phenotypes
Breast cancer, somatic 114480; CLOVE syndrome, somatic 612918; Colorectal cancer, somatic 114500; Cowden syndrome 5 615108; Gastric cancer, somatic 613659; Hepatocellular carcinoma, somatic 114550; Keratosis, seborrheic, somatic 182000; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501; Nevus, epidermal, somatic 162900; Nonsmall cell lung cancer, somatic 211980; Ovarian cancer, somatic 167000
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- UKGTN
- Phenotypes
-
- Breast cancer, somatic 114480
- CLOVE syndrome, somatic 612918
- Colorectal cancer, somatic 114500
- Cowden syndrome 5 615108
- Gastric cancer, somatic 613659
- Hepatocellular carcinoma, somatic 114550
- Keratosis, seborrheic, somatic 182000
- Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
- Nevus, epidermal, somatic 162900
- Nonsmall cell lung cancer, somatic 211980
- Ovarian cancer, somatic 167000
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Panels with this gene
-
- Vascular skin disorders
- Multiple monogenic benign skin tumours
- Intellectual disability
- Limb disorders
- Genodermatoses with malignancies
- Cerebral vascular malformations
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Malformations of cortical development
- Hydrocephalus
- Childhood solid tumours
- Familial Neural Tube Defects
- Segmental overgrowth disorders - Deep sequencing
- Pigmentary skin disorders
- Mosaic skin disorders - deep sequencing
- Skeletal dysplasia
- Inherited non-medullary thyroid cancer
- DDG2P
- Early onset or syndromic epilepsy
- Neurological segmental overgrowth
- Hereditary haemorrhagic telangiectasia
- Fetal anomalies
History Filter Activity
18 Apr 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
18 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIK3CA was created by ellenmcdonagh
18 Apr 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3CA was added to Multiple Tumourspanel. Sources: UKGTN