Neonatal cholestasisGene: EHHADH
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. Phenotype does not appear to have any hepatic involvement.
Created: 14 Aug 2018, 10:39 a.m.
This panel has been subjected to extensive internal and external review.
Gene: ehhadh has been classified as Red List (Low Evidence).
Phenotypes for gene: EHHADH were set to ?Fanconi renotubular syndrome 3 615605
Mode of inheritance for gene: EHHADH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
EHHADH was added to Cholestasis panel. Sources: Emory Genetics Laboratory
EHHADH was created by Ellen McDonagh