Gastrointestinal epithelial barrier disorders
Gene: FOXP3Comment on list classification: Expert review and previous curation agree that variants in this gene are linked to gastrointestinal epithelial barrier disorder phenotypes - notably early onset inflammatory bowel disease. Therefore this gene will be promoted to greenCreated: 26 Jul 2018, 11:41 a.m.
Associated with phenotype in OMIM and 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. Numerous variants reported.Created: 5 Sep 2016, 6:49 a.m.
Comment on phenotypes: Also associated with {Diabetes mellitus, type I, susceptibility to} 222100Created: 5 Sep 2016, 6:49 a.m.
Gene: foxp3 has been classified as Green List (High Evidence).
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
Model of inheritance for gene FOXP3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene FOXP3 were set to Early Onset Inflammatory Bowel Disease, Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790 Publications for gene FOXP3 was set to ['27302973']
FOXP3 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
FOXP3 was created by Olivia Niblock