Congenital hypothyroidism
Gene: GLIS3Comment 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.
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
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.
This gene has been classified as Green List (High Evidence).
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
Publications for GLIS3 were set to 26259131; 16715098
Mode of inheritance for GLIS3 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene GLIS3 were set to Congenital hypothyroidism;Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
GLIS3 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: UKGTN
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
GLIS3 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: Radboud University Medical Center, Nijmegen
GLIS3 was created by oniblock