DEMO Diabetes neonatal onset

Gene: IL2RA

Comment when marking as ready: Reviewed and confirmed information

Created: 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 function

Created: 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

Green List (high evidence)

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.

Red List (low evidence)

Green List (high evidence)

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

• 17196245

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.