IUGR and IGF abnormalities
Gene: DHCR7
DHCR7 (7-dehydrocholesterol reductase)
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
4 reviews
Mehul Dattani (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
emma baple (Genomics England Curator)
Comment on phenotypes: IUGR and SGA are a featureCreated: 25 Apr 2016, 12:31 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Smith Lemli Opitz
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Skeletal ciliopathies
- Clefting
- CAKUT
- Severe microcephaly
- Holoprosencephaly - NOT chromosomal
- Childhood onset dystonia, chorea or related movement disorder
- Differences in sex development
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Structural eye disease
- Neurological ciliopathies
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- IUGR and IGF abnormalities
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
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