IL10RA

interleukin 10 receptor subunit alpha
OMIM: 146933, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green IL10RA in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • IL-10 signalling defects / deficiency
  • Inflammatory bowel disease 28, early onset, autosomal recessive 613148
Green IL10RA in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review 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
Green IL10RA in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • Diseases of Immune Dysregulation
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
Green IL10RA in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
  • Diseases of Immune Dysregulation
Tags
  • early-onset
Green IL10RA in Severe Paediatric Disorders


Version 1.184

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148