Hereditary haemorrhagic telangiectasia
Gene: ATR

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.

Created: 12 Dec 2016, 12:52 p.m.

Panel version: 0.29

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.

Created: 13 Nov 2016, 10:13 p.m.

Panel version: 0.4

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, OMIM:614564

OMIM

601215

Clinvar variants

Variants in ATR

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATR were changed from Cutaneous telangiectasia and cancer syndrome, familial, 614564 (biallelic) to ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564

12 Dec 2016, Gel status: 1