Autoinflammatory disorders
Gene: ADA2
ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 9 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 11:44 a.m. | Last Modified: 16 Feb 2022, 11:44 a.m.
Panel Version: 0.36
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
- OMIM
- 607575
- Clinvar variants
- Variants in ADA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Rare anaemia
- Hereditary neuropathy or pain disorder
- COVID-19 research
- Cerebral vascular malformations
- Autoinflammatory disorders
History Filter Activity
19 Jan 2022, Gel status: 3
Added New Source
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to ADA2.
11 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: ADA2 was added gene: ADA2 was added to Autoinflammatory disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 24552285; 29564582; 27059682; 24552284; 26922074; 27444081 Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688