Neonatal cholestasis
Gene: INVSComment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
nephronophthisis; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: invs has been classified as Green List (High Evidence).
Gene: invs has been classified as Green List (High Evidence).
Publications for gene: INVS were set to 2702088; 19177160; 12872123
Publications for gene: INVS were set to 2702088
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile 602088
Mode of inheritance for gene: INVS was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to INVS. Panel: Cholestasis
INVS was added to Cholestasis panel. Sources: Emory Genetics Laboratory
INVS was created by Ellen McDonagh