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 15 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

I don't know

AR multisystem disorder with early onset in childhood.

There is a high variability in phenotype in affected individuals with most patients having features of vasculitis affecting blood vessels in the brain due to recurrent strokes. Amber rating due to the phenotype - CVMs secondary to stroke. Many patients have been reported with biallelic variants in ADA2 found to have abnormal cerebral findings on MRI due to a reported haemorrhagic stroke.
Created: 18 Nov 2024, 11:09 p.m. | Last Modified: 18 Nov 2024, 11:09 p.m.
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
vasculitis due to ADA2 deficiency MONDO:0014306

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some affected individuals have immunodeficiency. At least 10 unrelated families reported, the p.Gly47Arg variant is a common founder variant in the Jewish population.
Created: 15 Jun 2021, 9:53 a.m. | Last Modified: 15 Jun 2021, 9:53 a.m.
Panel Version: 0.8011

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and haematologic 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
  • Genomics England PanelApp
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Sneddon syndrome 182410
  • Polyarteritis nodosa
OMIM
607575
Clinvar variants
Variants in ADA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADA2 was added gene: ADA2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 3471198, 25528372 Phenotypes for gene: ADA2 were set to Sneddon syndrome 182410; Polyarteritis nodosa