Cerebral vascular malformations

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - amber in view of likely presentation with significant short stature.
Created: 29 Nov 2019, 7:02 p.m. | Last Modified: 29 Nov 2019, 7:02 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

Comment when marking as ready: recognised on G2P as causing Seckel. Seckel associated with brain aneurysms and moyamoya
Created: 15 Dec 2016, 8:57 a.m.
Comment on list classification: recognised on G2P as causing Seckel.
Created: 15 Dec 2016, 8:56 a.m.
Moyamoya and intracerebral aneurysms have been reported in Seckel syndrome
Created: 14 Dec 2016, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Seckel syndrome 1 210600

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Seckel syndrome 1 210600
OMIM
601215
Clinvar variants
Variants in ATR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ATR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ATR.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ATR.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for ATR were set to 12640452

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

ATR was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ATR was created by agardham