Cytopenias and congenital anaemias
Gene: ADA2EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
changed MOI due to updating panels for GMSCreated: 22 Jul 2019, 3:53 p.m. | Last Modified: 22 Jul 2019, 3:53 p.m.
Panel Version: 1.71
Comment on list classification: Due to new publication PMID: 30503522 there is now enough evidence to rate this gene greenCreated: 6 Mar 2019, 2:17 p.m.
CECR1 previous gene symbol for ADA2Created: 7 Aug 2018, 10:57 a.m.
Comment on publications: http://www.bloodjournal.org/content/130/Suppl_1/874
Szvetnik, Enikoe Amina et al. Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2. Blood 130.Suppl 1 (2017): 874. Web. 07 Aug. 2018.Created: 7 Aug 2018, 10:57 a.m.
Mary Alikian (Imperial College London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DBA
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
- Sneddon syndrome, OMIM:182410
- Diamond-Blackfan Anemia
- OMIM
- 607575
- Clinvar variants
- Variants in ADA2
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Cerebral vascular malformations
- Autoinflammatory disorders
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Hereditary neuropathy or pain disorder
- COVID-19 research
- Rare anaemia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADA2 were changed from Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Diamond-Blackfan Anemia to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410; Diamond-Blackfan Anemia
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADA2 were changed from DBA; Diamond-Blackfan Anemia to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Diamond-Blackfan Anemia
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: ADA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: ada2 has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: ada2 has been classified as Red List (Low Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ADA2 were set to DBA; Diamond-Blackfan Anemia
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874
Added New Source
Mary Alikian (Imperial College London)ADA2 was added to Cytopaenias and congenital anaemias panel. Sources: Literature
Created
Mary Alikian (Imperial College London)ADA2 was created by Mary Alikian