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 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: 1 Green review plus >3 cases of GLIS3 mutations causing MIM:610199. Plus confirmed DD-G2P gene for 'Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199'.
Created: 13 Feb 2017, 10:09 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 13 Feb 2017, 10:02 a.m.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neonatal non-autoimmune diabetes mellitus; severe congenital hypothyroidism; variable cholestasis; hepatic fibrosis; congenital glaucoma; polycystic kidneys; dysmorphic facies; sensorineural deafness

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital hypothyroidism
  • Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
  • neonatal non-autoimmune diabetes mellitus
  • severe congenital hypothyroidism
  • variable cholestasis
  • hepatic fibrosis
  • congenital glaucoma
  • polycystic kidneys
  • dysmorphic facies
  • sensorineural deafness
OMIM
610192
Clinvar variants
Variants in GLIS3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.

13 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Feb 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

13 Feb 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GLIS3 were set to 26259131; 16715098

13 Feb 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene GLIS3 were set to Congenital hypothyroidism;Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199

13 Oct 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

GLIS3 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: UKGTN

13 Oct 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

GLIS3 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal

13 Oct 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

GLIS3 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Radboud University Medical Center, Nijmegen

13 Oct 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

GLIS3 was created by oniblock