Cystic kidney disease
Gene: GLIS2EnsemblGeneIds (GRCh38): ENSG00000126603
EnsemblGeneIds (GRCh37): ENSG00000126603
OMIM: 608539, Gene2Phenotype
GLIS2 is in 11 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Insufficient evidence - await further research results.Created: 10 May 2016, 10:21 a.m.
Miranda Durkie (Genetics)
Nephronophthisis (AR)
Created: 22 Oct 2015, 11:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 608539
- Clinvar variants
- Variants in GLIS2
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- DDG2P
- Cystic kidney disease
- Fetal anomalies
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GLIS2 was added to Cystic kidney diseasepanel. Sources: Expert