Neonatal diabetes
Gene: FOXP3
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.
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.
Phenotypes for gene: FOXP3 were changed from Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I)); IPEX syndrome to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
Source NHS GMS was added to FOXP3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
This gene has been classified as Green List (High Evidence).
Publications for FOXP3 were set to 25187107; 26918796; 12750858; 17635943
This gene has been classified as Green List (High Evidence).
Publications for FOXP3 were set to 25187107; 26918796
Mode of inheritance for FOXP3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for FOXP3 were set to
Publications for FOXP3 were set to 21378176
Phenotypes for FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (includes Insulin-dependent diabetes mellitus (type I)); IPEX syndrome
FOXP3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene FOXP3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
FOXP3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN