Familial and multiple pulmonary arteriovenous malformations
Gene: ATMComment when marking as ready: Phenotype not relevant for this panel according to expert reviewer Claire Shovlin (Imperial College London)Created: 13 Dec 2016, 1:45 p.m.
Comment on phenotypes: Also associated with: Lymphoma, B-cell non-Hodgkin, somatic; Lymphoma, mantle cell, somatic; T-cell prolymphocytic leukemia, somatic;{Breast cancer, susceptibility to} 114480Created: 13 Dec 2016, 10:48 a.m.
I assume this listing has been made because pulmonary arteriovenous malformations are commonly due to underlying hereditary haemorrhagic telangiectasia (HHT), and ATM 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, 10:56 p.m.
This gene has been classified as Red List (Low Evidence).
Phenotypes for ATM were set to Ataxia-telangiectasia, 208900
Publications for ATM were set to 6417247; 2666519;2212727
This gene has been classified as Red List (Low Evidence).
ATM was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
ATM was created by ellenmcdonagh