DEMO Diabetes neonatal onset
Gene: GLIS3
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: GLIS3; 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 congenital hypothyroidism.Created: 11 Jan 2019, 4:27 p.m.
Comment on list classification: Rated green by expert reviewer. Confirmed G2P gene for 'Diabetes mellitus, neonatal, with congenital hypothyroidism' (MIM:610199). >3 unrelated cases to support gene:phenotype association. Plus part of the Exeter neonatal diabetes screen.Created: 20 Apr 2017, 7:49 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance confirmed by OMIM and Gene2Phenotype.Created: 20 Apr 2017, 7:47 a.m.
gene: GLIS3 was added gene: GLIS3 was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism