Neonatal cholestasisGene: NPHP4
Comment when marking as ready: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. However, the phenotypes associated with this gene do not appear to have any involvement with liver disease.
Created: 15 Aug 2018, 2:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This panel has been subjected to extensive internal and external review.
Gene: nphp4 has been classified as Red List (Low Evidence).
Phenotypes for gene: NPHP4 were set to Nephronophthisis 4 606966; Senior-Loken syndrome 4 606996
Mode of inheritance for gene: NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to NPHP4. Panel: Cholestasis
NPHP4 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
NPHP4 was created by Ellen McDonagh