This Panel is marked as Internal
DEMO Diabetes neonatal onset
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
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: FOXP3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: IPEX syndrome.Created: 11 Jan 2019, 4:27 p.m.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green: 1 Green expert review, confirmed DD-G2P gene for IPEX syndrome (which presents with neonatal diabetes) and >3 unrelated cases of FOXP3 variants causing IPEX syndrome. Plus part of Exeter neonatal diabetes screen.
Created: 20 Apr 2017, 12:38 p.m.
Comment on mode of inheritance: X-linked recessive/hemizygous mode of inheritance confirmed on OMIM and G2P.Created: 20 Apr 2017, 12:12 p.m.
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
-
- UKGTN
- Eligibility statement prior genetic testing
- NHS GMS
- Expert Review Green
- NHS GMS
- Phenotypes
-
- IPEX syndrome
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I))
- OMIM
- 300292
- Clinvar variants
- Variants in FOXP3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Familial Meniere Disease
- IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked
- Neonatal diabetes
- Monogenic diabetes
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Fetal hydrops
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Familial diabetes
- Multi-organ autoimmune diabetes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
History Filter Activity
2 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FOXP3 was added gene: FOXP3 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FOXP3 were set to 25187107; 17635943; 26918796; 12750858 Phenotypes for gene: FOXP3 were set to IPEX syndrome; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I))