Haematological malignancies cancer susceptibility
Gene: ADAEnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Numerous reports of ADA variants associated with Severe combined immunodeficiency due to ADA deficiency (OMIM: 102700), which has been associated with acute myeloid leukemia (AML)(PMID: 32098966).Created: 7 May 2025, 2:27 p.m. | Last Modified: 7 May 2025, 2:27 p.m.
Panel Version: 4.8
Lauma Freimane (Children's Clinical University Hospital)
A causative factor of T cell-negative, B cell-negative, natural killer cell-negative severe combined immunodeficiency.
Sources: LiteratureCreated: 19 Jun 2023, 12:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe combined immunodeficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Severe combined immunodeficiency due to ADA deficiency, OMIM: 102700
- OMIM
- 608958
- Clinvar variants
- Variants in ADA
- Penetrance
- None
- Publications
- 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
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ADA were changed from severe combined immunodeficiency to Severe combined immunodeficiency due to ADA deficiency, OMIM: 102700
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ada has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Lauma Freimane (Children's Clinical University Hospital)gene: ADA was added gene: ADA was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 32098966 Phenotypes for gene: ADA were set to severe combined immunodeficiency