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  3. ATR
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Familial and multiple pulmonary arteriovenous malformations

Gene: ATR

Red List (low evidence)
ATR (ATR serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.
Created: 13 Dec 2016, 2:42 p.m.

Panel version: 0.47

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 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.
Created: 13 Nov 2016, 11:01 p.m.

Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Seckel syndrome 1, 210600
  • Cutaneous telangiectasia and cancer syndrome, familial, 614564
OMIM
601215
Clinvar variants
Variants in ATR
Penetrance
Complete
Publications
Panels with this gene

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 Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ATR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Dec 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ATR were set to 6417247;2666519; 2212727

19 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ATR was created by ellenmcdonagh

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATR was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen