Gastrointestinal epithelial barrier disorders
Gene: IL10RBEnsemblGeneIds (GRCh38): ENSG00000243646
EnsemblGeneIds (GRCh37): ENSG00000243646
OMIM: 123889, Gene2Phenotype
IL10RB is in 4 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer.
Variants in this gene are linked to Early Onset Inflammatory bowel disease 25, as described in OMIM and in the literature (19890111; 21519361).Created: 25 Jul 2018, 4:21 p.m.
Ellen McDonagh (Genomics England Curator)
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel. Numerous four homozygous variants reportedCreated: 5 Sep 2016, 6:56 a.m.
Comment on phenotypes: Also associated with Hepatitis B virus, susceptibility to 610424Created: 2 Sep 2016, 11:45 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Inflammatory bowel disease 25, early onset, autosomal recessive, 612567
- Inflammatory Bowel Disease
- Inflammatory Bowel Disease (Very Early Onset)
- Inflammatory bowel disease 25, early onset, autosomal recessive
- Ulcerative Colitis
- OMIM
- 123889
- Clinvar variants
- Variants in IL10RB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Olivia Niblock (Genomics England Curator)Publications for gene: IL10RB were set to 19890111; 21519361
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
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: il10rb has been classified as Green List (High Evidence).
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Inflammatory bowel disease 25, early onset, autosomal recessive, Ulcerative Colitis
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)Other was added to IL10RB. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), Inflammatory bowel disease 25, early onset, autosomal recessive
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)UKGTN was added to IL10RB. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)
Added New Source, Set penetrance
Olivia Niblock (Genomics England Curator)Illumina TruGenome Clinical Sequencing Services was added to IL10RB. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RB were set to Inflammatory bowel disease 25, early onset, autosomal recessive, 612567, Inflammatory Bowel Disease
Added New Source
Olivia Niblock (Genomics England Curator)IL10RB was added to Gastrointestinal epithelial barrier disorders panel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)IL10RB was created by Olivia Niblock