Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: ADAEnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels
3 reviews
Neil shah (GOSH)
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 12 May 2018, 9:07 a.m.
Comment on list classification: Rated green by Neil Shah (GOSH), and green on Combined B and T cell defect Version 1.0 and SCID Version 1 gene panels.Created: 10 Oct 2016, 1:09 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Numerous variants reported.
Created: 5 Sep 2016, 10:20 a.m.
Comment on phenotypes: Adenosine deaminase deficiency, partial 102700Created: 5 Sep 2016, 10:06 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Phenotypes
-
- Severe combined immunodeficiency due to ADA deficiency (SCID) 102700
- Tags
- OMIM
- 608958
- Clinvar variants
- Variants in ADA
- Penetrance
- Complete
- Panels with this gene
-
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Autoinflammatory disorders
- Haematological malignancies cancer susceptibility
- Undiagnosed metabolic disorders
- Severe combined immunodeficiency with adenosine deaminase deficiency
- Intellectual disability
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ADA were set to Severe combined immunodeficiency due to ADA deficiency (SCID) 102700
Upload gene information
Sarah Leigh (Genomics England Curator)ADA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene ADA were set to Severe combined immunodeficiency due to ADA deficiency (SCID) 102700
Created
Ellen McDonagh (Genomics England Curator)ADA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ADA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list