Cerebral vascular malformations
Gene: ATR
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
Comment when marking as ready: recognised on G2P as causing Seckel. Seckel associated with brain aneurysms and moyamoyaCreated: 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 syndromeCreated: 14 Dec 2016, 5:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 1 210600
Phenotypes for gene: ATR were changed from Seckel syndrome 1 210600 to Seckel syndrome 1, OMIM:210600
Source Expert Review Amber was added to ATR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to ATR.
Source NHS GMS was added to ATR.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for ATR were set to 12640452
This gene has been classified as Green List (High Evidence).
ATR was created by agardham
ATR was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature