Monogenic diabetes
Gene: FOXP3EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 16 panels
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review.Created: 7 Jun 2016, 10:04 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Removed
- Phenotypes
-
- {Diabetes mellitus, type I, susceptibility to}, 222100
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
- IPEX syndrome
- Tags
- 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
- 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
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: FOXP3.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to FOXP3. Rating Changed from Green List (high evidence) to No List (delete)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes {Diabetes mellitus, type I, susceptibility to}, 222100; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; IPEX syndrome for gene: FOXP3
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: FOXP3 was added gene: FOXP3 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females