Infantile enterocolitis & monogenic inflammatory bowel disease
Gene: FOXP3EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 16 panels
2 reviews
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
- Expert list
- Phenotypes
-
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
- OMIM
- 300292
- Clinvar variants
- Variants in FOXP3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Familial Meniere Disease
- IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- COVID-19 research
- Fetal hydrops
- Familial diabetes
- Neonatal diabetes
- Multi-organ autoimmune diabetes
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.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
Upload gene information
Sarah Leigh (Genomics England Curator)FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene FOXP3 were set to IPEX
Upload gene information
Ellen McDonagh (Genomics England Curator)FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)FOXP3 was created by ellenmcdonagh