Skeletal ciliopathies
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
2 reviews
Eleanor Williams (Genomics England Curator)
Associated with Smith-Lemli-Opitz syndrome in OMIM. They describe this as "an autosomal recessive multiple congenital malformation and mental retardation syndrome." Several skeletal features are listed in the clinical features in OMIM including limb shortening, Hip dislocation and subluxation, and abnormalities of the hands and feet.Created: 14 Nov 2019, 11:41 a.m. | Last Modified: 14 Nov 2019, 11:41 a.m.
Panel Version: 0.15
Alice Gardham (Genomics England)
Important differential diagnosis of ciliopathyCreated: 25 Jan 2017, 2:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Smith-Lemli-Opitz syndrome 270400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Smith-Lemli-Opitz syndrome 270400
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Smith-Lemli-Opitz syndrome
- DDG2P
- Neonatal cholestasis
- Monogenic short stature
- Fetal anomalies
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- CAKUT
- Skeletal dysplasia
- Paediatric or syndromic cardiomyopathy
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Osteogenesis imperfecta
- Neurological ciliopathies
- Clefting
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Severe microcephaly
- Holoprosencephaly
- Intellectual disability
- Fetal hydrops
- Familial Hirschsprung Disease
- Differences in sex development
- Skeletal ciliopathies
History Filter Activity
10 Jul 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: DHCR7 was added gene: DHCR7 was added to Skeletal ciliopathies. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 9634533 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400