Neonatal cholestasisGene: EPHX1
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants reported, with cholestasis recorded in at least one untreated case.
Created: 14 Aug 2018, 12:01 p.m.
This panel has been subjected to extensive internal and external review.
Gene: ephx1 has been classified as Red List (Low Evidence).
Publications for gene: EPHX1 were set to 12704386
Phenotypes for gene: EPHX1 were set to ?Hypercholanemia, Familial 607748
EPHX1 was added to Cholestasis panel. Sources: UKGTN
EPHX1 was created by Ellen McDonagh