Bilateral congenital or childhood onset cataracts
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
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Cataracts part of SLO, which is a very variable condition in presentation.Created: 7 Jun 2016, 12:38 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
Cataracts a feature in ~12% of SLOS patients. Lots of publications describing DHCR7 mutations in SLOS but haven't found one with specific mention of cataractsCreated: 25 May 2016, 8:10 a.m.
Phenotypes
Smith-Lemli-Opitz syndrome
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is a confirmed DD gene for SMITH-LEMLI-OPITZ SYNDROME which does include cataracts as a phenotype.Created: 13 May 2016, 1:03 p.m.
Is on the Manchester congenital cataracts gene panel.Created: 29 Apr 2016, 10:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Smith-Lemli-Opitz syndrome
- 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
27 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DHCR7 was changed to BIALLELIC, autosomal or pseudoautosomal
27 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DHCR7 were set to Smith-Lemli-Opitz syndrome
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 May 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()DHCR7 was added to Cataractspanel. Sources: UKGTN