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This Panel is marked as Internal

Newborns main panel
Gene: GLIS3

GLIS3 (GLIS family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000107249
EnsemblGeneIds (GRCh37): ENSG00000107249
OMIM: 610192, Gene2Phenotype
GLIS3 is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 35394098 - 16 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Diabetes mellitus, neonatal, with congenital hypothyroidism

OMIM

Clinvar variants

Variants in GLIS3

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GLIS3. Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to GLIS3. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism for gene: GLIS3

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GLIS3 was added gene: GLIS3 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal