Cerebral vascular malformations
Gene: ADA2
ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 16 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Genomics England PanelApp
- Expert Review Amber
- Phenotypes
-
- Sneddon syndrome 182410
- Polyarteritis nodosa
- OMIM
- 607575
- Clinvar variants
- Variants in ADA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Nucleotide metabolism disorders
- Prepair 1000+
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Disorders of immune dysregulation
- Autoimmune Lymphoproliferative Syndrome
- Mendeliome
- IBMDx study
- Cerebral vascular malformations
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