Neonatal diabetes
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.
Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism to Diabetes mellitus, neonatal, with congenital hypothyroidism, OMIM:610199
Source NHS GMS was added to GLIS3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199; Neonatal Diabetes mellitus with congenital hypothyroidism
GLIS3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
GLIS3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN
Model of inheritance for gene GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
GLIS3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Illumina TruGenome Clinical Sequencing Services
GLIS3 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Radboud University Medical Center, Nijmegen