Cerebral vascular malformations

Gene: ADA2

Amber List (moderate evidence)

ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 ADA2
Created: 24 Mar 2017, 12:11 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Polyarteritis nodosa including aneurysms, stenosis, strokes.
Created: 19 Dec 2016, 2:56 p.m.

Alice Gardham (Genomics England)

I don't know

Limited literature
Created: 14 Dec 2016, 3:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sneddon syndrome 182410

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Sneddon syndrome 182410
  • Polyarteritis nodosa
OMIM
607575
Clinvar variants
Variants in ADA2
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 ADA2. 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 ADA2.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ADA2.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

CECR1 was changed to ADA2

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from CECR1. Panel: Cerebrovascular disorders

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

19 Dec 2016, Gel status: 4

Set Phenotypes

Ellen Thomas (Genomics England Curator)

Phenotypes for CECR1 were set to Sneddon syndrome 182410; Polyarteritis nodosa

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

14 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CECR1 was created by agardham

14 Dec 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

CECR1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature