Genomics England

adenosine deaminase

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ADENOSINE DEAMINASE DEFICIENCY 102700
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	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 5.3	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 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes