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  3. IL10RB
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Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: IL10RB

Green List (high evidence)
IL10RB (interleukin 10 receptor subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000243646
EnsemblGeneIds (GRCh37): ENSG00000243646
OMIM: 123889, Gene2Phenotype
IL10RB is in 4 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: 0.122

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 reported
Created: 5 Sep 2016, 6:56 a.m.
Comment on phenotypes: Also associated with Hepatitis B virus, susceptibility to 610424
Created: 2 Sep 2016, 11:45 a.m.
Created: 2 Sep 2016, 11:40 a.m.

Panel version: 0.31

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • IL-10 signalling defects / deficiency
  • Inflammatory bowel disease 25, early onset, autosomal recessive 612567
OMIM
123889
Clinvar variants
Variants in IL10RB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

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.

2 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IL10RB were set to IL-10 signalling defects / deficiency; Inflammatory bowel disease 25, early onset, autosomal recessive 612567

2 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

2 Sep 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene IL10RB were set to IL-10 signalling defects / deficiency; Inflammatory bowel disease 25, early onset, autosomal recessive 612567

2 Sep 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

IL10RB was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

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 IL10RB were set to IL-10 signalling defects

12 May 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

IL10RB 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)

IL10RB was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IL10RB was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list