Differences in sex development
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
4 reviews
Ivone Leong (Genomics England Curator)
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)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Other
- Phenotypes
-
- Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)
- Smith-Lemli-Opitz syndrome, 270400
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- DDG2P
- Differences in sex development
- Clefting
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Skeletal ciliopathies
- Neurological ciliopathies
- IUGR and IGF abnormalities
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Holoprosencephaly - NOT chromosomal
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Added New Source
Sarah Leigh (Genomics England Curator)DHCR7 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)DHCR7 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)DHCR7 was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)DHCR7 was added to Disorders of sex developmentpanel. Sources: UKGTN,Other
Created
Ellen McDonagh (Genomics England Curator)DHCR7 was created by ellenmcdonagh