ADA2

adenosine deaminase 2
OMIM: 607575
PanelMode of inheritanceDetails
5 panels
R-numbers: R413
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
R-numbers: R91
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688, Sneddon syndrome, OMIM:182410, Diamond-Blackfan Anemia
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688, Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever, Autoinflammatory Disorders
Green
in Rare anaemia
R-numbers: R92
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688, Sneddon syndrome, OMIM:182410, Diamond-Blackfan Anemia
R-numbers: R332
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688