Kidneyome_SuperPanel_VCGS
Gene: GLIS2EnsemblGeneIds (GRCh38): ENSG00000126603
EnsemblGeneIds (GRCh37): ENSG00000126603
OMIM: 608539, Gene2Phenotype
GLIS2 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Nephronophthisis 7, OMIM#611498
- OMIM
- 608539
- Clinvar variants
- Variants in GLIS2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
History Filter Activity
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 Kidneyome_SuperPanel_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Amber Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLIS2 were set to 23559409; 17618285 Phenotypes for gene: GLIS2 were set to Nephronophthisis 7, OMIM#611498