Familial and multiple pulmonary arteriovenous malformationsGene: ATR
Comment when marking as ready: Phenotypes not relevant to this panel according to expert reviewer Claire Shovlin (Imperial College London)
Created: 13 Dec 2016, 2:42 p.m.
I assume this listing has been made because pulmonary arteriovenous malformations are commonly due to underlying hereditary haemorrhagic telangiectasia (HHT), and ATR pathogenic variants lead to ataxia telangiectasia.
The telangiectasia in ataxia telangiectasia are not the same as those in hereditary haemorrhagic telangiectasia, clinically or histopathologically (PMID: 6417247; PMID: 2666519; PMID: 2212727), and the serine threonine kinases belong to different signalling pathways. There is no evidence that I am aware of that the molecular pathways disrupted in these diseases overlap.
Created: 13 Nov 2016, 11:01 p.m.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for ATR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for ATR were set to 6417247;2666519; 2212727
ATR was created by ellenmcdonagh
ATR was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen