Hereditary haemorrhagic telangiectasiaGene: PIK3CA
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.
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.
This gene has been classified as Red List (Low Evidence).
PIK3CA was added to Hereditary haemorrhagic telangiectasiapanel. Sources: UKGTN
PIK3CA was created by ellenmcdonagh