Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: ADA
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ADA were set to Severe combined immunodeficiency due to ADA deficiency (SCID) 102700
ADA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene ADA were set to Severe combined immunodeficiency due to ADA deficiency (SCID) 102700
ADA was created by ellenmcdonagh
ADA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list