Gastrointestinal epithelial barrier disorders
Gene: IL10Comment on list classification: Expert review indicates that this gene is high evidence, however there appears to be only one known variant in 2 homozygous individuals recorded in the literature. As functional tests in murine models support a homozygous disease state, this gene will be promoted to green.Created: 26 Jul 2018, 10:37 a.m.
Comment on list classification: Promoted from red. Rated green by expert review. Currently two cases reported in a recent publication (homozygous for the same variant), with mouse model evidence that IL-10 null mice spontaneously develop colitis or are more susceptible to induction of colitis by infections, drugs, and autoimmune reactions (PMID: 20951137). On Orphanet: "Disease-causing germline mutation(s) (loss of function) in Autosomal recessive early-onset inflammatory bowel disease".Created: 12 Oct 2016, 2:39 p.m.
Not associated with phenotype in OMIM nor G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. One variant reported in two unrelated homozygotes.Created: 5 Sep 2016, 6:54 a.m.
Gene: il10 has been classified as Green List (High Evidence).
Gene: il10 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: IL10 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Other was added to IL10. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10 were set to Inflammatory Bowel Disease (Very Early Onset), Crohn disease
IL10 was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
IL10 was created by Olivia Niblock