Gastrointestinal epithelial barrier disorders
Gene: FOXP3EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 16 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment 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.
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
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Early Onset Inflammatory Bowel Disease
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
- OMIM
- 300292
- Clinvar variants
- Variants in FOXP3
- Penetrance
- None
- 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
- Intellectual disability
- Familial Meniere Disease
- IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Intestinal failure or congenital diarrhoea
- COVID-19 research
- Fetal hydrops
- Familial diabetes
- Neonatal diabetes
- Multi-organ autoimmune diabetes
- Monogenic diabetes
History Filter Activity
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: foxp3 has been classified as Green List (High Evidence).
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)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
Set mode of inheritance, Set penetrance, Set publications
Olivia Niblock (Genomics England Curator)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']
Added New Source
Olivia Niblock (Genomics England Curator)FOXP3 was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)FOXP3 was created by Olivia Niblock