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  3. IL10RA
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Gastrointestinal epithelial barrier disorders

Gene: IL10RA

Green List (high evidence)
IL10RA (interleukin 10 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000110324
EnsemblGeneIds (GRCh37): ENSG00000110324
OMIM: 146933, Gene2Phenotype
IL10RA 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.
Created: 25 Jul 2018, 4:20 p.m.
Created: 25 Jul 2018, 4:20 p.m.

Panel version: 0.35

Ellen McDonagh (Genomics England Curator)

Created: 5 Nov 2017, 2:44 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0

Neil shah (GOSH)

Green List (high evidence)

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

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Four different homozygous variants reported and two further variants reported as compound heterozygotes.
Created: 5 Sep 2016, 6:54 a.m.

Publications

Created: 6 Sep 2016, 11:35 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.113

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
  • Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • IL-10 signalling defects / deficiency
  • Inflammatory bowel disease 28, early onset, autosomal recessive 613148
  • Ulcerative Colitis
OMIM
146933
Clinvar variants
Variants in IL10RA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jul 2018, Gel status: 4

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

25 Jul 2018, Gel status: 4

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: il10ra has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

Other was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), IL-10 signalling defects / deficiency, Inflammatory bowel disease 28, early onset, autosomal recessive 613148, Ulcerative Colitis

17 Apr 2018, Gel status: 4

Set penetrance, Set publications

Olivia Niblock (Genomics England Curator)

Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset), IL-10 signalling defects / deficiency, Inflammatory bowel disease 28, early onset, autosomal recessive 613148 Publications for gene IL10RA was set to ['27302973']

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

UKGTN was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease, Inflammatory Bowel Disease (Very Early Onset)

17 Apr 2018, Gel status: 3

Added New Source, Set penetrance

Olivia Niblock (Genomics England Curator)

Illumina TruGenome Clinical Sequencing Services was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148, Inflammatory Bowel Disease

17 Apr 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Olivia Niblock (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to IL10RA. Panel: Gastrointestinal epithelial barrier disorders Model of inheritance for gene IL10RA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene IL10RA were set to Early Onset Inflammatory Bowel Disease, Inflammatory bowel disease 28, early onset, autosomal recessive, 613148

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

IL10RA was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

IL10RA was created by Olivia Niblock