Miscellaneous Metabolic Disorders

Gene: ADA

Green List (high evidence)

ADA (adenosine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism.
Sources: NHS GMS
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Adenosine deaminase deficiency, partial MIM#102700
  • Severe combined immunodeficiency due to ADA deficiency MIM#102700
  • disorder of purine metabolism
OMIM
608958
Clinvar variants
Variants in ADA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ada has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ada has been classified as Green List (High Evidence).

22 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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