Unexplained kidney failure in young people
Gene: INVSEnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 15 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least five variants reportedCreated: 4 Aug 2016, 1:53 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Expert
- Phenotypes
-
- Nephronophthisis 2, infantile 602088
- OMIM
- 243305
- Clinvar variants
- Variants in INVS
- Penetrance
- Complete
- Panels with this gene
-
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Fetal anomalies
- Ductal plate malformation
- Cystic kidney disease
- Renal ciliopathies
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile 602088 to Nephronophthisis 2, infantile 602088
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for INVS were set to Nephronophthisis 2, infantile 602088
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for INVS were set to Nephronophthisis 2, infantile 602088; Ciliopathy genes associated with cystic kidney disease
Upload gene information
Sarah Leigh (Genomics England Curator)INVS was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for INVS were set to Nephronophthisis 2, infantile 602088; Ciliopathy genes associated with cystic kidney disease
Added New Source
Sarah Leigh (Genomics England Curator)INVS was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)INVS was created by sleigh