ADA

adenosine deaminase
OMIM: 608958
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ADENOSINE DEAMINASE DEFICIENCY 102700
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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 2.1
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