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Nucleotide metabolism disorders

Gene: ADA

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families, variable severity.
Created: 13 Jul 2021, 5:16 a.m. | Last Modified: 13 Jul 2021, 5:16 a.m.
Panel Version: 0.8313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064

Publications

Created: 13 Jul 2021, 5:16 a.m.
Last Modified: 13 Jul 2021, 5:16 a.m.
Panel version: Imported from Mendeliome panel version 0.8313

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

Created: 22 Jan 2021, 5:31 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.18

Details

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

History Filter Activity

20 May 2024, Gel status: 3

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 Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 3684597; 3475710; 2783588; 1680289 Phenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700; disorder of purine metabolism