Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: FOXP3
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.
14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
Phenotypes for FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
Phenotypes for gene FOXP3 were set to IPEX
FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing
FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
FOXP3 was created by ellenmcdonagh