Genomics England

adenosine deaminase

Panel	Mode of inheritance	Details
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Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADENOSINE DEAMINASE DEFICIENCY 102700
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700, Adenosine deaminase deficiency, partial, OMIM:102700
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.91	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700, Adenosine deaminase deficiency, partial, OMIM:102700
Green in Severe combined immunodeficiency with adenosine deaminase deficiency R-numbers: R16 Signed-off version 1.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700, severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, MONDO:0007064