Cerebral vascular malformations
Gene: ADA2
Downgraded from Green to Amber. Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - Amber in view of Neuro tends to present with stroke secondary to vessel occlusion.Created: 3 Dec 2019, 2 p.m. | Last Modified: 3 Dec 2019, 2 p.m.
Panel Version: 1.70
New approved gene symbol is ADA2Created: 24 Mar 2017, 12:11 p.m.
Comment on list classification: Polyarteritis nodosa including aneurysms, stenosis, strokes.Created: 19 Dec 2016, 2:56 p.m.
Publications for gene: ADA2 were set to 3471198, 25528372
Phenotypes for gene: ADA2 were changed from Sneddon syndrome 182410; Polyarteritis nodosa to ?Sneddon syndrome, OMIM:182410; Polyarteritis nodosa, MONDO:0019170
Source Expert Review Amber was added to ADA2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to ADA2.
Source NHS GMS was added to ADA2.
CECR1 was changed to ADA2
new-gene-name was removed from CECR1. Panel: Cerebrovascular disorders
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CECR1 were set to Sneddon syndrome 182410; Polyarteritis nodosa
This gene has been classified as Green List (High Evidence).
CECR1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature
CECR1 was created by agardham