This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
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
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: DHCR7; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Congenital or cystic renal disease; Tubulointerstitial disease; Genetic diagnosis: Smith-Lemli-Opitz syndrome; OMIM phenotype MIM no.: 270400; Number of cases: 3 (all compound heterozygous)Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert review green
- Literature
- Phenotypes
-
- Tubulointerstitial disease
- Congenital or cystic renal disease
- Nephropathy of unknown origin
- MIM 270400
- Smith-Lemli-Opitz syndrome
- OMIM
- 602858
- Clinvar variants
- Variants in DHCR7
- Penetrance
- None
- Panels with this gene
-
- Neonatal cholestasis
- Structural eye disease
- Skeletal dysplasia
- Skeletal ciliopathies
- Clefting
- Holoprosencephaly
- Neurological ciliopathies
- CAKUT
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Familial Hirschsprung Disease
- Smith-Lemli-Opitz syndrome
- Fetal hydrops
- Early onset or syndromic epilepsy
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Renal ciliopathies
- Osteogenesis imperfecta
- Monogenic short stature
- Severe microcephaly
- Rare multisystem ciliopathy disorders
- IUGR and IGF abnormalities
- Intellectual disability
- Differences in sex development
History Filter Activity
2 Jul 2019, Gel status: 3
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to DHCR7. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: DHCR7 was added gene: DHCR7 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Tubulointerstitial disease; Congenital or cystic renal disease; Nephropathy of unknown origin; MIM 270400; Smith-Lemli-Opitz syndrome