Gastrointestinal epithelial barrier disorders
Gene: IL10EnsemblGeneIds (GRCh38): ENSG00000136634
EnsemblGeneIds (GRCh37): ENSG00000136634
OMIM: 124092, Gene2Phenotype
IL10 is in 6 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment 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.
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 Green
- Other
- UKGTN
- Phenotypes
-
- Inflammatory Bowel Disease (Very Early Onset)
- Crohn disease
- OMIM
- 124092
- Clinvar variants
- Variants in IL10
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: il10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: il10 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for gene: IL10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)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
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)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
Added New Source
Olivia Niblock (Genomics England Curator)IL10 was added to Gastrointestinal epithelial barrier disorders panel. Sources: UKGTN
Created
Olivia Niblock (Genomics England Curator)IL10 was created by Olivia Niblock