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Mendeliome

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

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
  • MONDO:0007064
OMIM
608958
Clinvar variants
Variants in ADA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, MIM# 102700; MONDO:0007064

13 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADA were set to

13 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADA was added gene: ADA was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADA was set to Unknown