BabyScreen+ newborn screening
Gene: GLIS3

GLIS3 (GLIS family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000107249
EnsemblGeneIds (GRCh37): ENSG00000107249
OMIM: 610192, Gene2Phenotype
GLIS3 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Other similar disorders included; include for consistency.
Created: 5 Mar 2023, 5:29 a.m. | Last Modified: 5 Mar 2023, 5:29 a.m.

Panel Version: 0.1883

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199

Created: 5 Mar 2023, 5:29 a.m.
Last Modified: 5 Mar 2023, 5:29 a.m.
Panel version: 0.1883

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Babyseq C, on GUARDIAN and RxGenes

IUGR, neonatal diabetes, cystic renal disease, hepatitis and dysmorphic facial features
developmental delay
high early mortality but components of disease are treatable (death due to renal disease and hepatic fibrosis and sepsis)
Treat insulin and thyroxine as per Rx genes
Possible new drug treatments evolving but no clinical trials yet.
Infants would present so maybe best left for diagnostic ? but does sort of fit our criteria...
Created: 24 Feb 2023, 10:41 a.m. | Last Modified: 24 Feb 2023, 10:41 a.m.

Panel Version: 0.1872

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199

Publications

PMID: 29406006, 29992946, 27899417, PMID: 26259131

Created: 24 Feb 2023, 10:41 a.m.
Last Modified: 24 Feb 2023, 10:41 a.m.
Panel version: 0.1872

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene
BeginNGS

Phenotypes

Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199

Tags

treatable endocrine

OMIM

610192

Clinvar variants

Variants in GLIS3

Penetrance

None

Publications

Panels with this gene