Renal ciliopathies
Gene: GLIS2Kept rating as Amber following Red reviews from Penny Clouston and Andrea Nemeth- insufficient evidence for inclusion of GLIS2 on this Ciliopathy panel.Created: 17 Jun 2019, 8:12 a.m.
Transferring text over from Publications field: PMID:26374130 (functional study); PMIDs:23559409;18227149 Glis2 mutant (Glis2(mut)) mice exhibit significantly shorter life spans compared to wild-type (WT) mice, due to the development of progressive chronic kidney disease with features resembling nephronophthisis; PMID:17618285 - Canadian Oji-Cree kindred.Created: 17 Jun 2019, 8:09 a.m.
Insufficient evidence in the literature to classify as a green gene.
2 cases (23559409 and 17618285) in the literature lack phenotype and/or functional data.
This gene is currently on our diagnostic panel, however, no cases have been identified to date (of 185 Joubert/Ciliopathy cases).Created: 17 Sep 2018, 12:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
The first paper reports a single splice mutation in a consanguineous family with NPHP, there is no detailed phenotyping. There is immunofluorescence data suggesting localisation to cilia, no other functional data.
The second paper reports a second family with a missense mutation, C175R, that might also affect splicing. Again the patient was reported to have NPHP, again there is no detailed phenotype data.
The third paper reports that the missense mutation C175R is likely to be pathogenic, and is involved in transcription, therefore questioning its role in cilial function.
The gene warrants being included in unexplained renal failure, but the evidence to support being in the cilial panel is weak.Created: 5 Sep 2018, 11:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nephronopthisis (NPHP)
Publications
Comment on list classification: A family report and a case report.Created: 13 Dec 2016, 2:42 p.m.
gene: GLIS2 was added gene: GLIS2 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Expert Review Amber,Radboud University Medical Center, Nijmegen,Orphanet,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS2 were set to 26374130; 23559409; 17618285; 18227149 Phenotypes for gene: GLIS2 were set to Nephronophthisis; NPHP; Nephronophthisis 7, 611498