DEMO Diabetes neonatal onset
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.
Comment on list classification: Promoted from red to green due to expert review.Created: 7 Jun 2016, 10:04 a.m.
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))