Gastrointestinal epithelial barrier disorders
Gene: IL10RAComment 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.Created: 25 Jul 2018, 4:20 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Four different homozygous variants reported and two further variants reported as compound heterozygotes.Created: 5 Sep 2016, 6:54 a.m.
Publications
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: il10ra has been classified as Green List (High Evidence).
Other was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), IL-10 signalling defects / deficiency, Inflammatory bowel disease 28, early onset, autosomal recessive 613148, Ulcerative Colitis
Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), IL-10 signalling defects / deficiency, Inflammatory bowel disease 28, early onset, autosomal recessive 613148 Publications for gene IL10RA was set to ['27302973']
UKGTN was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
Illumina TruGenome Clinical Sequencing Services was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease
Radboud University Medical Center, Nijmegen was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Model of inheritance for gene IL10RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
IL10RA was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
IL10RA was created by Olivia Niblock