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  2. Congenital hypothyroidism
  3. GLIS3
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Congenital hypothyroidism

Gene: GLIS3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay.

More than 5 unrelated families reported.
Created: 3 Feb 2021, 10:15 a.m. | Last Modified: 3 Feb 2021, 10:15 a.m.
Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Feb 2021, 10:15 a.m.
Last Modified: 3 Feb 2021, 10:15 a.m.
Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199
OMIM
610192
Clinvar variants
Variants in GLIS3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: glis3 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLIS3 were changed from polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199

3 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GLIS3 were set to 26259131; 16715098

3 Feb 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLIS3 was added gene: GLIS3 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS3 were set to 26259131; 16715098 Phenotypes for gene: GLIS3 were set to polycystic kidneys; neonatal non-autoimmune diabetes mellitus; congenital glaucoma; hepatic fibrosis; sensorineural deafness; Congenital hypothyroidism; variable cholestasis; dysmorphic facies; severe congenital hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199