Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: IL10

Amber List (moderate evidence)

IL10 (interleukin 10)
EnsemblGeneIds (GRCh38): ENSG00000136634
EnsemblGeneIds (GRCh37): ENSG00000136634
OMIM: 124092, Gene2Phenotype
IL10 is in 8 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)

Green List (high evidence)

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
  • 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

14 Oct 2016, Gel status: 2

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.

12 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Sep 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: UKGTN

2 Sep 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene IL10 were set to IL-10 signalling defects / deficiency; IL10-Related Inflammatory Bowel Disease

12 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene IL10 were set to IL-10 signalling defects

12 May 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IL10 was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IL10 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list