Renal ciliopathies

Gene: GLIS2

Amber List (moderate evidence)

GLIS2 (GLIS family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000126603
EnsemblGeneIds (GRCh37): ENSG00000126603
OMIM: 608539, Gene2Phenotype
GLIS2 is in 13 panels

4 reviews

Rebecca Foulger (Genomics England curator)

Kept 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.

Penny Clouston (Oxford)

Red List (low evidence)

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

Andrea Nemeth (University of Oxford)

Red List (low evidence)

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: A family report and a case report.
Created: 13 Dec 2016, 2:42 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis
  • NPHP
  • Nephronophthisis 7, 611498
OMIM
608539
Clinvar variants
Variants in GLIS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

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