DEMO Diabetes neonatal onset
Gene: GLIS3EnsemblGeneIds (GRCh38): ENSG00000107249
EnsemblGeneIds (GRCh37): ENSG00000107249
OMIM: 610192, Gene2Phenotype
GLIS3 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
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.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- Phenotypes
-
- Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
- Neonatal Diabetes mellitus with congenital hypothyroidism
- OMIM
- 610192
- Clinvar variants
- Variants in GLIS3
- Penetrance
- None
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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