Gastrointestinal epithelial barrier disorders
Gene: ADAEnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:21 p.m.
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
- Sources
-
- Expert Review Amber
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Gastrointestinal defects and immunodeficiency syndrome, 243150
- Inflammatory Bowel Disease (Very Early Onset)
- OMIM
- 608958
- Clinvar variants
- Variants in ADA
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Likely inborn error of metabolism
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Undiagnosed metabolic disorders
- Severe combined immunodeficiency with adenosine deaminase deficiency
History Filter Activity
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: ada has been classified as Amber List (Moderate Evidence).
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)UKGTN was added to ADA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene ADA were set to Gastrointestinal defects and immunodeficiency syndrome, 243150, Inflammatory Bowel Disease (Very Early Onset)
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene ADA were set to Gastrointestinal defects and immunodeficiency syndrome, 243150
Added New Source
Olivia Niblock (Genomics England Curator)ADA was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)ADA was created by oniblock