Stroke

Gene: ADA2

Green List (high evidence)

ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, ischaemic and hemorrhagic stroke reported.
Created: 10 Mar 2021, 12:25 a.m. | Last Modified: 10 Mar 2021, 12:25 a.m.
Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Clinical manifestations of deficiency of ADA2 (DADA2) include hypogammaglobulinemia and recurrent infections. At least 10 unrelated cases reported, of which 6 have a CVID diagnosis.
Sources: Literature
Created: 23 Jul 2020, 4:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688
OMIM
607575
Clinvar variants
Variants in ADA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ada2 has been classified as Green List (High Evidence).

10 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa; Sneddon syndrome 182410 to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688

10 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADA2 were set to

22 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ADA2 was added gene: ADA2 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADA2 were set to Polyarteritis nodosa; Sneddon syndrome 182410