Newborns main panel
Gene: ADA

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: VCEP - a ClinGen Variant Review Expert Panel (VCEP) has produced specifications to the ACMP/AMP variant interpretation guidelines for this gene.

Additional Information: Link to Severe Combined Immunodeficiency Disease Variant Curation Expert Panel (VCEP) - https://www.clinicalgenome.org/affiliation/50091/
Created: 25 Sep 2024, 1:45 p.m. | Last Modified: 25 Sep 2024, 1:45 p.m.

Panel Version: 0.469

Created: 25 Sep 2024, 1:45 p.m.
Last Modified: 25 Sep 2024, 1:45 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

ADA curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Severe combined immunodeficiency due to ADA deficiency

Tags

special_consideration

OMIM

608958

Clinvar variants

Variants in ADA

Penetrance

None

Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ADA.

6 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADA were changed from SCID due to ADA deficiency to Severe combined immunodeficiency due to ADA deficiency

14 Sep 2023, Gel status: 3