DEMO Diabetes neonatal onset
Gene: IL2RAComment when marking as ready: Reviewed and confirmed informationCreated: 3 Dec 2019, 6:26 a.m. | Last Modified: 3 Dec 2019, 6:26 a.m.
Panel Version: 0.12
Comment on mode of pathogenicity: Gain of functionCreated: 3 Dec 2019, 6:25 a.m. | Last Modified: 3 Dec 2019, 6:25 a.m.
Panel Version: 0.10
Comment on list classification: This gene-disease association has been refuted.Created: 3 Dec 2019, 6:24 a.m. | Last Modified: 3 Dec 2019, 6:24 a.m.
Panel Version: 0.8
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: IL2RA; 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: Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive.Created: 11 Jan 2019, 4:27 p.m.
Neonatal diabetes has been reported in 1/4 patients with IL2RA mutations in the paper by Caudy et al 2007 J Allergy Clin Immunol. 119:482-7. We have also identified mutations in this gene in 2 additional unrelated patients referred to Exeter for neonatal diabetes testing.Created: 29 May 2017, 8:34 a.m.
Publications
Comment on list classification: Updated rating from Grey to Green. IL2RA gene added by Sian Ellard during panel review. PMID:17196245 (Caudy et al 2007) report 1 patient with neonatal diabetes and biallelic IL2RA mutations. Elisa De-Franco (University of Exeter Medical School) report 2 additional patients referred to Exeter for referred to Exeter for neonatal diabetes testing. Therefore 3 cases in total, plus part of Exeter neonatal diabetes screen.Created: 30 May 2017, 3:30 p.m.
Comment when marking as ready: Marked as Ready: 29th May 2017.Created: 29 May 2017, 7:53 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by patient reported in PMID:17196245 (Caudy et al., 2007).Created: 25 May 2017, 8:44 a.m.
PMID:17196245 (Caudy et al., 2007) describe a patient with an IPEX-like syndrome (including insulin-dependent diabetes mellitus diagnosed at 6 weeks), and a deficiency in CD25 (IL2RA). He carries a single base pair insertion of one allele of his CD25 gene and a second allele with a substitution resulting in a stop codon. Paper was highlighted by Dr. Elisa De, Franco, University of Exeter Medical School.Created: 25 May 2017, 8:43 a.m.
Gene: il2ra has been classified as Red List (Low Evidence).
Phenotypes for gene: IL2RA were changed from Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; IPEX-like syndrome; insulin-dependent diabetes mellitus at 8-weeks; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; neonatal diabetes to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; IPEX-like syndrome; insulin-dependent diabetes mellitus at 8-weeks; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; neonatal diabetes
Publications for gene: IL2RA were set to 17196245; 12345; 678926
Mode of pathogenicity for gene: IL2RA was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: IL2RA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: il2ra has been classified as Red List (Low Evidence).
Publications for gene: IL2RA were set to 17196245
gene: IL2RA was added gene: IL2RA was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Expert Review Mode of inheritance for gene: IL2RA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IL2RA were set to 17196245 Phenotypes for gene: IL2RA were set to Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive; IPEX-like syndrome; insulin-dependent diabetes mellitus at 8-weeks; {Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942; neonatal diabetes