Renal ciliopathies
Gene: DHCR7EnsemblGeneIds (GRCh38): ENSG00000172893
EnsemblGeneIds (GRCh37): ENSG00000172893
OMIM: 602858, Gene2Phenotype
DHCR7 is in 27 panels
3 reviews
Eleanor Williams (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
After consultation with the Genomics England rare disease clinical team it has been agreed that although there are some cystic changes in Smith-Lemli-Opitz syndrome it is not is not the main renal phenotype, and so it should be downgraded to RED on the renal ciliopathies panel at the next major review.Created: 7 Jul 2020, 10:33 a.m. | Last Modified: 7 Jul 2020, 10:33 a.m.
Panel Version: 1.23
chirag patel (Genetic Health Queensland)
This is more a syndromic CAKUT gene, rather than a renal ciliopathy gene.Created: 3 Jan 2020, 3:50 a.m. | Last Modified: 3 Jan 2020, 3:50 a.m.
Panel Version: 1.0
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, OMIM:270400
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome 270400 to Smith-Lemli-Opitz syndrome, OMIM:270400
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: DHCR7.
Added Tag
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: DHCR7.
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 Renal ciliopathies. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHCR7 were set to 9634533 Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400