Tubulointerstitial kidney disease
Gene: GLIS2
GLIS2 (GLIS family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000126603
EnsemblGeneIds (GRCh37): ENSG00000126603
OMIM: 608539, Gene2Phenotype
GLIS2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000126603
EnsemblGeneIds (GRCh37): ENSG00000126603
OMIM: 608539, Gene2Phenotype
GLIS2 is in 11 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:GLIS2;Suggested initial gene rating: Amber;Evidence for inclusion: Might be 3 families (green if so), need to check literature further;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 7 MIM 611498
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Phenotypes
-
- Nephronopthisis 7 MIM 611498
- OMIM
- 608539
- Clinvar variants
- Variants in GLIS2
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- DDG2P
- Cystic kidney disease
- Skeletal dysplasia
- Fetal anomalies
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
2 Feb 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: GLIS2 was added gene: GLIS2 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS2 were set to Nephronopthisis 7 MIM 611498