ADA2

adenosine deaminase 2
OMIM: 607575
PanelMode of inheritanceDetails
4 panels
R-numbers: R91
Signed-off version 1.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diamond Blackfan anaemia, 615688 Polyarteritis nodosa/Sneddon sydrome
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyarteritis nodosa, Polyarteritis nodosa, childhood-onset, 615688, ADA2 deficiency, Deficiency of ADA2 (DADA2), Other autoinflammatory diseases with known genetic defect, Fever with early onset stroke, combined immunodeficiency, Evans' syndrome, Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever, Autoinflammatory Disorders
Green
in Rare anaemia
R-numbers: R92
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diamond Blackfan anaemia
R-numbers: R332
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VAIHS (Polyarteritis nodosa), Polyarteritis nodosa, VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME