Hereditary haemorrhagic telangiectasia

Gene: PIK3CA

Red List (low evidence)

PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000121879
EnsemblGeneIds (GRCh37): ENSG00000121879
OMIM: 171834, Gene2Phenotype
PIK3CA is in 21 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
Unknown

Phenotypes
Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome

Publications

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)

Red List (low evidence)

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.

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