Rare multisystem ciliopathy disorders
Gene: GLIS2EnsemblGeneIds (GRCh38): ENSG00000126603
EnsemblGeneIds (GRCh37): ENSG00000126603
OMIM: 608539, Gene2Phenotype
GLIS2 is in 11 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)
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)
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
-
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Nephronophthisis 7, 611498
- Nephronophthisis
- NPHP
- Tags
- OMIM
- 608539
- Clinvar variants
- Variants in GLIS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Tubulointerstitial kidney disease
- DDG2P
- Cystic kidney disease
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Fetal anomalies
History Filter Activity
Added Tag
Rebecca Foulger (Genomics England curator)Tag watchlist tag was added to gene: GLIS2.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, 611498; Nephronophthisis to Nephronophthisis 7, 611498; Nephronophthisis; NPHP
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: GLIS2 were set to 26374130 (functional study); 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; 17618285 - Canadian Oji-Cree kindred
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GLIS2 were set to 26374130 (functional study); 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; 17618285 - Canadian Oji-Cree kindred
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GLIS2 were set to 26374130 (functional study); 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;17618285
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GLIS2 were set to 26374130 (functional study); 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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GLIS2 were set to 26374130 (functional study); 23559409
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GLIS2 were set to 26374130 (functional study)
Upload gene information
Ellen McDonagh (Genomics England Curator)GLIS2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)GLIS2 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)GLIS2 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)GLIS2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)GLIS2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene GLIS2 were set to Nephronophthisis 7, 611498
Added New Source
Ellen McDonagh (Genomics England Curator)GLIS2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)GLIS2 was created by ellenmcdonagh