This Panel is marked as Deleted
Kidneyome_SuperPanel_VCGS
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- OMIM #270400
- Smith-Lemli-Opitz syndrome
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Likely inborn error of metabolism
- CAKUT
- Renal ciliopathies
- Holoprosencephaly - NOT chromosomal
- Skeletal ciliopathies
- Severe microcephaly
- Clefting
- Undiagnosed metabolic disorders
- Differences in sex development
- Structural eye disease
- Skeletal dysplasia
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
History Filter Activity
28 Jan 2020, 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 Kidneyome_SuperPanel_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 10069707; 9678700; 23059950; 3812577 Phenotypes for gene: DHCR7 were set to OMIM #270400; Smith-Lemli-Opitz syndrome