Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: IL10RA
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
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
This gene has been classified as Green List (High Evidence).
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
Phenotypes for gene IL10RA were set to IL-10 signalling defects / deficiency; Inflammatory bowel disease 28, early onset, autosomal recessive 613148
This gene has been classified as Red List (Low Evidence).
Phenotypes for gene IL10RA were set to IL-10 signalling defects
IL10RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing
This gene has been classified as Green List (High Evidence).
IL10RA was created by ellenmcdonagh
IL10RA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list