Sarcoma susceptibility

Gene: ATR

Amber List (moderate evidence)

ATR (ATR serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

This gene was added to the panel as suggested by Dr Fernanda Amary (Royal National Orthopaedic Hospital, NHS Trust). Gene Symbol submitted: ATR; Evidence for inclusion: PMID:27498913. Rated Amber as agreed at the Genomics Cancer Panel Workshop, 16th July 2019.
Created: 23 Jul 2019, 3:16 p.m. | Last Modified: 23 Jul 2019, 3:16 p.m.
Panel Version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert list
Phenotypes
  • Sarcoma, MONDO:0005089
OMIM
601215
Clinvar variants
Variants in ATR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ATR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

11 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ATR were changed from to Sarcoma, MONDO:0005089

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ATR.

23 Jul 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications

Rebecca Foulger (Genomics England curator)

gene: ATR was added gene: ATR was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: ATR was set to Publications for gene: ATR were set to 27498913