Neonatal cholestasis

Gene: DHCR7

Red List (low evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-Lemil-Opitz syndrome; cholestasis

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

14 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dhcr7 has been classified as Red List (Low Evidence).

14 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: DHCR7 was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to DHCR7. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DHCR7 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DHCR7 was created by Ellen McDonagh