Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: IL10RA

Green List (high evidence)

IL10RA (interleukin 10 receptor subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000110324
EnsemblGeneIds (GRCh37): ENSG00000110324
OMIM: 146933, Gene2Phenotype
IL10RA is in 6 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Neil shah (GOSH)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • IL-10 signalling defects / deficiency
  • Inflammatory bowel disease 28, early onset, autosomal recessive 613148
OMIM
146933
Clinvar variants
Variants in IL10RA
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

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

Upload gene information

Sarah Leigh (Genomics England Curator)

IL10RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

2 Sep 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene IL10RA were set to IL-10 signalling defects / deficiency; Inflammatory bowel disease 28, early onset, autosomal recessive 613148

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

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene IL10RA were set to IL-10 signalling defects

12 May 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

IL10RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing

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).

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

IL10RA was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

IL10RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list