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IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked
Gene: FOXP3
FOXP3 (forkhead box P3)
EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 16 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #304790) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 6:37 p.m. | Last Modified: 20 Dec 2025, 6:37 p.m.
Panel Version: 1.2
FOXP3 has been added to the panel for R157 IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:21 p.m. | Last Modified: 30 Jun 2023, 2:21 p.m.
Panel Version: 0.1
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
- immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, MONDO:0010580
- OMIM
- 300292
- Clinvar variants
- Variants in FOXP3
- Penetrance
- None
- 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
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, MONDO:0010580
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: FOXP3 was added gene: FOXP3 was added to IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females