ADA Chromosome 20
Adenosine deaminase
Upload your DNA to see your personal genotypes for variants in ADA.
What This Gene Does
This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
Gene Info
Gene Group
Adenosine deaminase family
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000196839
Associated Conditions (12)
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-negative
due to adenosine deaminase deficiency
SCID due to ADA deficiency
delayed onset
Partial adenosine deaminase deficiency
ADA-related disorder
Severe combined immunodeficiency disease
NK cell-positive
Key Variants
RS121908733
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS1235719506
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS1555844416
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS562055008
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS753855163
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS766539394
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS771207375
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS886056707
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS925528695
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS1194494050
Likely pathogenic
SCID due to ADA deficiency, delayed onset, Severe combined immunodeficiency
Health Risk
RS1209280928
Likely pathogenic
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS121908717
Likely pathogenic
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
All Variants (138)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2123507871 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2123516572 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2123516908 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2145366792 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2516161339 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2516161732 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2516169508 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2516172888 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2516175890 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2516197108 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS587776534 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS749484894 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS757796081 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS771266745 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS780014431 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS886041796 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS912914100 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS949745416 | Health Risk | Pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS121908719 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS121908721 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS121908724 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS121908725 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS121908727 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS121908739 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS1312320956 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS1323402380 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS1363043396 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS1452483770 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS1555844006 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS199422327 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2065346614 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2123508053 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2123511347 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS758073965 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS759445496 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS763478578 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS766590645 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS79281338 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |