Disorders of sex development

Gene: DHCR7

Green List (high evidence)

DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 29 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.
Created: 12 Sep 2016, 9:04 a.m.

John Achermann (UCL Institute of Child Health)

Green List (high evidence)

Variable genitalia as part of Smith-Lemli-Opitz sydnrome. May have adrenal insufficiency. Other phenotype features include 2-3 toe syndactyly, facies, development etc. can diagnose on biochemistry with elevated 7-dehydrocholesterol.
Created: 4 Feb 2016, 12:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Smith-Lemli-Opitz syndrome

Ellen McDonagh (Genomics England Curator)

Phenotypes sourced from UKGTN and OMIM. Mode of inheritance from OMIM.
Created: 11 Jan 2016, 10:45 a.m.

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

12 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene DHCR7 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Smith-Lemli-Opitz syndrome, 270400

20 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DHCR7 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

DHCR7 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

DHCR7 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DHCR7 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DHCR7 was created by ellenmcdonagh