IUGR and IGF abnormalities

Gene: DHCR7

Green List (high evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 19 panels

4 reviews

Mehul Dattani (UCL Institute of Child Health)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Philip Murray (University of Manchester)

I don't know

Peter Clayton (University of Manchester)

Red List (low evidence)

emma baple (Genomics England Curator)

Comment on phenotypes: IUGR and SGA are a feature
25 Apr 2016, 12:31 a.m.

History Filter Activity

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for DHCR7 were set to Smith Lemli Opitz

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

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

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DHCR7 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory