Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ADENOSINE DEAMINASE DEFICIENCY 102700 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined B and T cell defect, Adenosine deaminase deficiency (Disorders of purine metabolism), SCID, Infantile enterocolitis & monogenic inflammatory bowel disease |
R-numbers: R15 Signed-off version 4.123 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted), Severe combined immunodeficiency due to ADA deficiency, 102700, T-B- SCID, T-B+ SCID, Adenosine deaminase (ADA) deficiency, Atypical Severe Combined Immunodeficiency (Atypical SCID), Omenn syndrome, Severe combined immunodeficiency (SCID), Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects, Immunodeficiencies affecting cellular and humoral immunity |
R-numbers: R16 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |