Hereditary haemorrhagic telangiectasia

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: 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.

Claire Shovlin (Imperial College London)

Red List (low evidence)

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.

Details

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

History Filter Activity

12 Dec 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 (12th December 2016)

12 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

12 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).

12 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic)

12 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ATR were set to Cutaneous telangiectasia and cancer syndrome, familial, 614564

12 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 Hereditary haemorrhagic telangiectasiapanel. Sources: Radboud University Medical Center, Nijmegen