Neonatal cholestasis
Gene: INVSEnsemblGeneIds (GRCh38): ENSG00000119509
EnsemblGeneIds (GRCh37): ENSG00000119509
OMIM: 243305, Gene2Phenotype
INVS is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 5 variants identified in 4 unrelated cases. PMID: 2702088 reports that 1 child out of 7 with infantile Nephronophthisis 2, displayed severe cholestatic liver disease characterized by inflammatory portal fibrosis with mild duct proliferation (no genetic characterization was reported). Of the 4 cases in whom INVS variants were identified, three had hepatic fibrosis (PMID 19177160).Created: 15 Aug 2018, 1:44 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nephronophthisis; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Nephronophthisis 2, infantile 602088
- OMIM
- 243305
- Clinvar variants
- Variants in INVS
- Penetrance
- None
- Publications
- 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
- Ductal plate malformation
- Cystic kidney disease
- Renal ciliopathies
- Neonatal cholestasis
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: invs has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: invs has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: INVS were set to 2702088; 19177160; 12872123
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: INVS were set to 2702088
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile 602088
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: INVS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to INVS. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)INVS was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)INVS was created by Ellen McDonagh