Renal ciliopathies
Gene: INVS
INVS (inversin)
EnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 15 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Multiple case reports. Offered on GOS panelCreated: 19 Jan 2017, 3:01 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Senior-Loken syndrome
- Nephronophthisis 2, infantile, 602088
- Nephronophthisis
- OMIM
- 243305
- Clinvar variants
- Variants in INVS
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Retinal disorders
- Ductal plate malformation
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: INVS was added gene: INVS was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INVS were set to 12872123 Phenotypes for gene: INVS were set to Senior-Loken syndrome; Nephronophthisis 2, infantile, 602088; Nephronophthisis