Hereditary haemorrhagic telangiectasia
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
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Phenotypes not relevant to this panel according to expert reviewer Claire Shovlin (Imperial College London)Created: 13 Dec 2016, 4:50 p.m.
Claire Shovlin (Imperial College London)
CLOVES, Cowden’s syndrome, and the other Paediatric congenital malformation-dysmorphism-tumour syndromes that are caused by pathogenic variants in PIK3CA are clinically distinct to the syndrome of hereditary haemorrhagic telangiectasia which is commonly associated with pulmonary arteriovenous malformations. I am not aware that PIK3CA has been shown to be associated with pulmonary arteriovenous malformations.Created: 13 Nov 2016, 11:39 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi
- Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
- OMIM
- 171834
- Clinvar variants
- Variants in PIK3CA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Multiple monogenic benign skin tumours
- Limb disorders
- Malformations of cortical development
- Mosaic skin disorders - deep sequencing
- Hereditary haemorrhagic telangiectasia
- Segmental overgrowth disorders - Deep sequencing
- Genodermatoses with malignancies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Neurological segmental overgrowth
- Skeletal dysplasia
- Familial Neural Tube Defects
- Intellectual disability
- Hydrocephalus
- DDG2P
- Early onset or syndromic epilepsy
- Childhood solid tumours
- Pigmentary skin disorders
- Inherited non-medullary thyroid cancer
- Cerebral vascular malformations
- Fetal anomalies
- Vascular skin disorders
History Filter Activity
14 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
14 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PIK3CA was added to Hereditary haemorrhagic telangiectasiapanel. Sources: UKGTN
14 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PIK3CA was created by ellenmcdonagh