This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Severe microcephaly
- Renal ciliopathies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Neurological ciliopathies
- Monogenic short stature
- Undiagnosed metabolic disorders
- Holoprosencephaly
- Fetal hydrops
- Familial Hirschsprung Disease
- DDG2P
- Fetal anomalies
- Skeletal ciliopathies
- Differences in sex development
- Intellectual disability
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Smith-Lemli-Opitz syndrome
- Neonatal cholestasis
- Clefting
- Paediatric or syndromic cardiomyopathy
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)DHCR7 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)DHCR7 was created by Sarah Leigh