Vascular skin disorders

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

3 reviews

Tom Cullup (Great Ormond Street Hospital)

I don't know

Publications

Catherine Snow (Genomics England)

Comment on list classification: ATR classified as Amber, associated publication is based on just one family, no further reports of gene disease relationship at this time.
Created: 10 Dec 2019, 11:33 a.m. | Last Modified: 10 Dec 2019, 11:33 a.m.
Panel Version: 0.25
Comment on mode of inheritance: Following advice from Tom Cullup (GOSH) ATR MOI was changed to Monoallelic
Created: 9 Dec 2019, 3:25 p.m. | Last Modified: 9 Dec 2019, 3:25 p.m.
Panel Version: 0.22

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ATR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Cutaneous telangiectasia and cancer syndrome
OMIM
601215
Clinvar variants
Variants in ATR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 2

Set publications

Catherine Snow (Genomics England)

Publications for gene: ATR were set to

10 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: atr has been classified as Amber List (Moderate Evidence).

9 Dec 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: ATR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ATR.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ATR was added gene: ATR was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ATR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to Cutaneous telangiectasia and cancer syndrome