Gastrointestinal epithelial barrier disorders
Gene: ADAComment 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.
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.
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.
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
Gene: ada has been classified as Amber List (Moderate Evidence).
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)
Phenotypes for gene ADA were set to Gastrointestinal defects and immunodeficiency syndrome, 243150
ADA was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Radboud University Medical Center, Nijmegen
ADA was created by oniblock