Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IL10Comment 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.
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 Amber List (Moderate Evidence).
IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: UKGTN
Phenotypes for gene IL10 were set to IL-10 signalling defects / deficiency; IL10-Related Inflammatory Bowel Disease
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene IL10 were set to IL-10 signalling defects
IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing
IL10 was created by ellenmcdonagh
IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list