Neonatal cholestasisGene: DHCR7
Comment when marking as ready: The phenotype Smith-Lemli-Opitz syndrome 270400 does not appear to have hepatic involvement
Created: 14 Aug 2018, 10:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Smith-Lemil-Opitz syndrome; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: dhcr7 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Victorian Clinical Genetics Services was added to DHCR7. Panel: Cholestasis
DHCR7 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
DHCR7 was created by Ellen McDonagh