Monogenic Diabetes
Gene: GLIS3EnsemblGeneIds (GRCh38): ENSG00000107249
EnsemblGeneIds (GRCh37): ENSG00000107249
OMIM: 610192, Gene2Phenotype
GLIS3 is in 9 panels
1 review
Hali Van Niel (University of Melbourne)
>15 patients with GLIS3 change and neonatal diabetes mellitus with congenital hypothyroidism phenotype, characterised by diagnosis of neonatal diabetes in the first weeks of lifeCreated: 2 May 2024, 2:08 a.m. | Last Modified: 2 May 2024, 2:08 a.m.
Panel Version: 0.58
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436
- OMIM
- 610192
- Clinvar variants
- Variants in GLIS3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: glis3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GLIS3 were changed from Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3 to neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GLIS3 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GLIS3 was added gene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Removed,UKGTN,Expert Review Green 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; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3