Severe combined immunodeficiency with adenosine deaminase deficiency
Gene: ADAEnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #102700) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 12:56 p.m. | Last Modified: 29 Dec 2025, 12:56 p.m.
Panel Version: 1.4
ADA has been added to the panel for R16 Severe combined immunodeficiency with adenosine deaminase deficiency with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:38 p.m. | Last Modified: 30 Jun 2023, 3:38 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Severe combined immunodeficiency due to ADA deficiency, OMIM:102700
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, MONDO:0007064
- OMIM
- 608958
- Clinvar variants
- Variants in ADA
- Penetrance
- None
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Severe combined immunodeficiency with adenosine deaminase deficiency
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency, MONDO:0007064
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADA were changed from Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700 to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADA were changed from to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ADA was added gene: ADA was added to Severe combined immunodeficiency with adenosine deaminase deficiency. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal