Cytopenias and congenital anaemias
Gene: ADA2
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DBA
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
Phenotypes for gene: ADA2 were changed from DBA; Diamond-Blackfan Anemia to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Diamond-Blackfan Anemia
Mode of inheritance for gene: ADA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619
Gene: ada2 has been classified as Green List (High Evidence).
Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874; 29681619
Gene: ada2 has been classified as Red List (Low Evidence).
Phenotypes for gene: ADA2 were set to DBA; Diamond-Blackfan Anemia
Publications for gene: ADA2 were set to http://www.bloodjournal.org/content/130/Suppl_1/874
ADA2 was added to Cytopaenias and congenital anaemias panel. Sources: Literature
ADA2 was created by Mary Alikian