Autoinflammatory disorders
Gene: ADAEnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by Lauma Freimane (Children's Clinical University Hospital). Biallelic variants are associated with partial ADA deficiency or severe combined immunodeficiency (SCID) due to ADA deficiency with multiple unrelated cases reported.
Despite ADA null mice displaying severe pulmonary inflammation, could not find evidence of an autoinflammatory component observed in patients and therefore rating as Red on this panelCreated: 16 Apr 2024, 2:13 p.m. | Last Modified: 16 Apr 2024, 2:13 p.m.
Panel Version: 1.12
Lauma Freimane (Children's Clinical University Hospital)
Sources: LiteratureCreated: 19 Jun 2023, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
T(-), B(-), NK(-) severe combin immunodeficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Severe combined immunodeficiency due to ADA deficiency, OMIM:102700
- Adenosine deaminase deficiency, partial, 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
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADA were changed from T(-), B(-), NK(-) severe combin immunodeficiency to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ada has been classified as Red List (Low 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 Autoinflammatory disorders. 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 T(-), B(-), NK(-) severe combin immunodeficiency Review for gene: ADA was set to GREEN