DEMO Diabetes neonatal onset
Gene: LRBA
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: LRBA; 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: Neonatal diabetes and additional autoimmunity.Created: 11 Jan 2019, 4:27 p.m.
Comment when marking as ready: Marked as Ready: 25th May 2017.Created: 25 May 2017, 9:19 a.m.
Comment on list classification: Updated rating from Grey to Green. LRBA gene added by Sian Ellard during panel review. >3 unrelated cases of LRBA causing neonatal diabetes, plus part of Exeter neonatal diabetes screen.Created: 25 May 2017, 9:18 a.m.
Elisa De-Franco (University of Exeter Medical School) notes that LRBA has now been established as a cause of neonatal diabetes and additional autoimmune features in 9 families (PMID:28473463, Johnson et al., 2017).Created: 25 May 2017, 9:17 a.m.
PMID:26745254 (Schreiner et al 2016) report 2 Libyan siblings from consanguineous parents. Both patients had type-1 diabetes mellitus diagnosed during infancy and a truncating mutation in LRBA.Created: 27 Apr 2017, 3:03 p.m.
PMID:25468195 (Charbonnier et al 2015) report a boy who presented with an IPEX-like syndrome and a nonsense mutation in LRBA. He was diagnosed with type I diabetes in infancy.Created: 27 Apr 2017, 3:02 p.m.
Comment on phenotypes: Phenotypes taken from Exeter neonatal diabetes screen gene information.Created: 27 Apr 2017, 3:02 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by Exeter neonatal diabetes screen.Created: 27 Apr 2017, 3:01 p.m.
Comment on list classification: Gene added to the panel as green due to expert review.Created: 15 Jun 2016, 3:30 p.m.
gene: LRBA was added gene: LRBA was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Expert Review Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 25468195; 28473463; 26745254 Phenotypes for gene: LRBA were set to Immunodysregulation and type 1 diabetes; Immunodeficiency, common variable, 8, with autoimmunity, 614700; IPEX-like syndrome; Neonatal diabetes and additional autoimmunity