Cerebral vascular malformations
Gene: ATR

ATR (ATR serine/threonine kinase)
EnsemblGeneIds (GRCh38): ENSG00000175054
EnsemblGeneIds (GRCh37): ENSG00000175054
OMIM: 601215, Gene2Phenotype
ATR is in 10 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

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

Created: 14 Dec 2016, 5:16 p.m.

Panel version: 0.54

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Yorkshire and North East GLH
NHS GMS
Radboud University Medical Center, Nijmegen
Literature

Phenotypes

Seckel syndrome 1, OMIM:210600

OMIM

601215

Clinvar variants

Variants in ATR

Penetrance

Complete

Publications

12640452

Panels with this gene

History Filter Activity

25 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ATR were changed from Seckel syndrome 1 210600 to Seckel syndrome 1, OMIM:210600

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