Familial and multiple pulmonary arteriovenous malformations

Gene: ATM

Red List (low evidence)

ATM (ATM serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000149311
EnsemblGeneIds (GRCh37): ENSG00000149311
OMIM: 607585, Gene2Phenotype
ATM is in 29 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment 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} 114480
Created: 13 Dec 2016, 10:48 a.m.

Claire Shovlin (Imperial College London)

Red List (low evidence)

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.

History Filter Activity

13 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ATM were set to Ataxia-telangiectasia, 208900

13 Dec 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ATM were set to 6417247; 2666519;2212727

13 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ATM was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

19 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATM was created by ellenmcdonagh