Skeletal dysplasia
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
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: This ciliopathy gene is being added to the Skeletal dysplasia panel after discussion with the Genomics England clinical team. Smith-Lemli-Optiz syndrome includes features such as limb shortening as well as abnormalities of the hands and feet.Created: 15 Nov 2019, 2:27 p.m. | Last Modified: 15 Nov 2019, 2:27 p.m.
Panel Version: 1.210
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.
Sources: OtherCreated: 15 Nov 2019, 2:25 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
- Other
- Phenotypes
-
- Smith-Lemli-Opitz syndrome 270400
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal cholestasis
- Neurological ciliopathies
- Early onset or syndromic epilepsy
- Rare multisystem ciliopathy disorders
- Skeletal ciliopathies
- Severe microcephaly
- Clefting
- CAKUT
- Holoprosencephaly - NOT chromosomal
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Differences in sex development
- Undiagnosed metabolic disorders
- Intellectual disability
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Structural eye disease
- Renal ciliopathies
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Monogenic short stature
- DDG2P
- Bilateral congenital or childhood onset cataracts
History Filter Activity
15 Nov 2019, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: dhcr7 has been classified as Green List (High Evidence).
15 Nov 2019, Gel status: 1
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 dysplasia. Sources: Other 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 Review for gene: DHCR7 was set to GREEN