Congenital hypothyroidism
Gene: GLIS3EnsemblGeneIds (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)
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
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
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
Set publications
Rebecca Foulger (Genomics England curator)Publications for GLIS3 were set to 26259131; 16715098
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene GLIS3 were set to Congenital hypothyroidism;Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
Added New Source
Olivia Niblock (Genomics England Curator)GLIS3 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: UKGTN
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
Added New Source
Olivia Niblock (Genomics England Curator)GLIS3 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)GLIS3 was created by oniblock