Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IL10RAEnsemblGeneIds (GRCh38): ENSG00000110324
EnsemblGeneIds (GRCh37): ENSG00000110324
OMIM: 146933, Gene2Phenotype
IL10RA is in 4 panels
3 reviews
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 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
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene IL10RA were set to IL-10 signalling defects
Upload gene information
Ellen McDonagh (Genomics England Curator)IL10RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Ellen McDonagh (Genomics England Curator)IL10RA was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)IL10RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list