Miscellaneous Metabolic Disorders
Gene: ADA
Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism.
Sources: NHS GMSCreated: 22 Jan 2021, 5:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700; disorder of purine metabolism
Gene: ada has been classified as Green List (High Evidence).
Gene: ada has been classified as Green List (High Evidence).
gene: ADA was added gene: ADA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 3475710; 3684597; 2783588; 1680289 Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 Review for gene: ADA was set to GREEN gene: ADA was marked as current diagnostic