Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SMITH-LEMLI-OPITZ SYNDROME; SLOS
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- SMITH-LEMLI-OPITZ SYNDROME
- SLOS
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- CAKUT
- Renal ciliopathies
- Holoprosencephaly - NOT chromosomal
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal ciliopathies
- Differences in sex development
- Severe microcephaly
- Clefting
- Undiagnosed metabolic disorders
- Structural eye disease
- Skeletal dysplasia
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Early onset or syndromic epilepsy
- Neurological ciliopathies
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DHCR7 was created by ellenmcdonagh
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)DHCR7 was added to Cleftingpanel. Sources: Expert Review Green