Hereditary haemorrhagic telangiectasiaGene: ATR
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. One variant reported. Expert reviewer Claire Shovlin states that the phenotype is not relevant to this panel.
Created: 12 Dec 2016, 12:58 p.m.
Comment on phenotypes: Also associated with Seckel syndrome 1, 210600;
Created: 12 Dec 2016, 12:52 p.m.
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, 10:13 p.m.
Promoted to V1 (12th December 2016)
Mode of inheritance for ATR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
Phenotypes for ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic)
Phenotypes for ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, 614564
Publications for ATR were set to 6417247;2666519;2212727
ATR was created by ellenmcdonagh
ATR was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen