Gastrointestinal epithelial barrier disorders
Gene: IL10RBComment 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.
Variants in this gene are linked to Early Onset Inflammatory bowel disease 25, as described in OMIM and in the literature (19890111; 21519361).Created: 25 Jul 2018, 4:21 p.m.
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Numerous four homozygous variants reportedCreated: 5 Sep 2016, 6:56 a.m.
Comment on phenotypes: Also associated with Hepatitis B virus, susceptibility to 610424Created: 2 Sep 2016, 11:45 a.m.
Publications for gene: IL10RB were set to 19890111; 21519361
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: il10rb has been classified as Green List (High Evidence).
Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Inflammatory bowel disease 25, early onset, autosomal recessive, Ulcerative Colitis
Other was added to IL10RB. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Inflammatory bowel disease 25, early onset, autosomal recessive
UKGTN was added to IL10RB. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
Illumina TruGenome Clinical Sequencing Services was added to IL10RB. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease
IL10RB was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen
IL10RB was created by Olivia Niblock