Genomics England

adenosine deaminase 2

Panel	Mode of inheritance	Details
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Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688, Sneddon syndrome, OMIM:182410, Diamond-Blackfan Anemia
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	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 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688, Sneddon syndrome, OMIM:182410, Diamond-Blackfan Anemia
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688