Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IL10EnsemblGeneIds (GRCh38): ENSG00000136634
EnsemblGeneIds (GRCh37): ENSG00000136634
OMIM: 124092, Gene2Phenotype
IL10 is in 6 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
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.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- UKGTN
- Eligibility statement prior genetic testing
- Expert list
- Phenotypes
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- IL-10 signalling defects / deficiency
- IL10-Related Inflammatory Bowel Disease
- OMIM
- 124092
- Clinvar variants
- Variants in IL10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene IL10 were set to IL-10 signalling defects / deficiency; IL10-Related Inflammatory Bowel Disease
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene IL10 were set to IL-10 signalling defects
Upload gene information
Ellen McDonagh (Genomics England Curator)IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)IL10 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list