Disorders of sex developmentGene: DHCR7
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.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.
Created: 12 Sep 2016, 9:04 a.m.
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 sourced from UKGTN and OMIM. Mode of inheritance from OMIM.
Created: 11 Jan 2016, 10:45 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for gene DHCR7 were set to Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN); Smith-Lemli-Opitz syndrome, 270400
DHCR7 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
DHCR7 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
DHCR7 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
DHCR7 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other
DHCR7 was created by ellenmcdonagh