Rare multisystem ciliopathy disorders
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
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
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Differences in sex development
- Monogenic short stature
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Skeletal ciliopathies
- Neurological ciliopathies
- IUGR and IGF abnormalities
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
25 Jan 2017, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
25 Jan 2017, Gel status: 1
Added New Source
Alice Gardham (Genomics England)DHCR7 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
25 Jan 2017, Gel status: 0
Created
Alice Gardham (Genomics England)DHCR7 was created by agardham